Aspectos genéticos em estrabismo

Purpose: To evaluate the genetic aspects of strabismus. Methods: Ophthalmic and orthoptic evaluations were performed prospectively on 110 strabismic probands and 478 relatives. We used 3 different criteria in the diagnosis of strabismus: primary diagnosis (dx1) defined as any manifest horizontal or vertical deviation, a secondary diagnosis (dx2) including esophoria (>7 prism diopters) or exophoria (>9 prism diopters), and a tertiary diagnosis (dx3) including abnormal fusional amplitudes, accommodative convergence/accommodation (AC/A) ratio, and/or stereopsis; monofixation syndrome; 4 prism diopters base out; and/or abnormal Maddox test responses. Analyses were carried out within mating types. Results: Hypotheses of autosomal dominant or recessive inheritance with no sporadics were rejected. Based on the dx1, 25% of the families had more than one individual affected and there was vertical transmission in 13%; adding dx2 there were 36% of the families with more than one affected and 21% had vertical transmission; and adding dx3, there were 73% with more than one affected and 51% with vertical transmission. Conclusions: There is evidence for a pattern consistent with an autosomal dominant form of strabismus in most families.Objetivo: Avaliar aspectos genéticos em estrabismo. Métodos: Foram realizados exames oftalmológicos e ortópticos prospectivamente em 110 propósitos estrábicos e 478 familiares. Foram usados 3 diferentes critérios no diagnóstico de estrabismo: diagnóstico primário (dx1) foi definido como qualquer desvio horizontal ou vertical manifesto, diagnóstico secundário (dx2) incluiu esoforias (> 7 dioptrias prismáticas) ou exoforia (< 9 dioptrias prismáticas) e diagnóstico terciário (dx3), que incluiu amplitudes de fusão anormal, relação convergência acomodativa/acomodação (CA/A) elevada, estereopsia anormal, síndrome de monofixação, e teste das 4 dioptrias prismáticas e teste de Maddox anormais. A análise dos resultados foi por meio da avaliação dos pedigrees segundo o tipo de união. Resultados: As hipóteses de herança autossômicas dominantes ou recessivas sem casos esporádicos foram rejeitadas. Baseado no dx1, 25% das famílias tiveram mais de um indivíduo afetado e houve transmissão vertical em 13%; adicionando o dx2, foi encontrado que 36% das famílias tinham mais de um membro afetado e houve transmissão vertical em 21%; e adicionando dx3, 73% das famílias tinham mais de um membro afetado e houve transmissão vertical em 51% delas. Conclusão: Existem evidências que apontam para um padrão compatível com herança autossômica dominante na maioria das famílias.Federal University of São Paulo Department of OphthalmologyUCLA Jules Stein Eye Institute Department of OphthalmologyUniversity of Colorado The Children's Hospital Rocky Mountain Lions Eye InstituteUNIFESP, Department of OphthalmologySciEL

Virtual patients design and its effect on clinical reasoning and student experience : a protocol for a randomised factorial multi-centre study

Background Virtual Patients (VPs) are web-based representations of realistic clinical cases. They are proposed as being an optimal method for teaching clinical reasoning skills. International standards exist which define precisely what constitutes a VP. There are multiple design possibilities for VPs, however there is little formal evidence to support individual design features. The purpose of this trial is to explore the effect of two different potentially important design features on clinical reasoning skills and the student experience. These are the branching case pathways (present or absent) and structured clinical reasoning feedback (present or absent). Methods/Design This is a multi-centre randomised 2x2 factorial design study evaluating two independent variables of VP design, branching (present or absent), and structured clinical reasoning feedback (present or absent).The study will be carried out in medical student volunteers in one year group from three university medical schools in the United Kingdom, Warwick, Keele and Birmingham. There are four core musculoskeletal topics. Each case can be designed in four different ways, equating to 16 VPs required for the research. Students will be randomised to four groups, completing the four VP topics in the same order, but with each group exposed to a different VP design sequentially. All students will be exposed to the four designs. Primary outcomes are performance for each case design in a standardized fifteen item clinical reasoning assessment, integrated into each VP, which is identical for each topic. Additionally a 15-item self-reported evaluation is completed for each VP, based on a widely used EViP tool. Student patterns of use of the VPs will be recorded. In one centre, formative clinical and examination performance will be recorded, along with a self reported pre and post-intervention reasoning score, the DTI. Our power calculations indicate a sample size of 112 is required for both primary outcomes

Form Factors and Wave Functions of Vector Mesons in Holographic QCD

Within the framework of a holographic dual model of QCD, we develop a formalism for calculating form factors of vector mesons. We show that the holographic bound states can be described not only in terms of eigenfunctions of the equation of motion, but also in terms of conjugate wave functions that are close analogues of quantum-mechanical bound state wave functions. We derive a generalized VMD representation for form factors, and find a very specific VMD pattern, in which form factors are essentially given by contributions due to the first two bound states in the Q^2-channel. We calculate electric radius of the rho-meson, finding the value _C = 0.53 fm^2.Comment: 7 pages, RevTex. References were added, some modifications in the text were mad

Does fine sediment source as well as quantity affect salmonid embryo mortality and development?

Fine sediments are known to be an important cause of increased mortality in benthic spawning fish. To date, most of the research has focussed on the relationship between embryo mortality and the quantity of fine sediment accumulated in the egg pocket. However, recent evidence suggests a) that the source of fine sediment might also be important, and b) that fitness of surviving embryos post-hatch might also be impacted by the accumulation of fine sediments. In this paper, we report an experiment designed to simulate the incubation environment of brown trout (Salmo trutta) and Atlantic salmon (Salmo salar). During the experiment, the incubating embryos were exposed to different quantities of fine (&lt; 63 ?m) sediment derived from four different sources; agricultural topsoils, damaged road verges, eroding river channel banks and tertiary level treated sewage. Results showed that mass and source are independently important for determining the mortality and fitness of alevin. Differences between species were observed, such that brown trout are less sensitive to mass and source of accumulated sediment. We demonstrate for the first time that sediment source is an additional control on the impact of fine sediment, and that this is primarily controlled by the organic matter content and oxygen consumption of the catchment source material

The relationship between web enjoyment and student perceptions and learning using a web-based tutorial

Web enjoyment has been regarded as a component of system experience. However, there has been little targeted research considering the role of web enjoyment alone in student learning using web-based systems. To address this gap, this study aims to examine the influence of web enjoyment on learning performance and perceptions by controlling system experience as a variable in the study. 74 students participated in the study, using a web-based tutorial covering subject matter in the area of 'Computation and algorithms'. Their learning performance was assessed with a pre-test and a post-test and their learning perceptions were evaluated with a questionnaire. The results indicated that there are positive relationships between the levels of web enjoyment and perceived usefulness and non-linear navigation for users with similar, significant levels of system experience. The implications of these findings in relation to web-based learning are explored and ways in which the needs of students who report different levels of web enjoyment might be met are discussed

Dynamical chiral symmetry breaking by a magnetic field and multi-quark interactions

Catalysis of dynamical symmetry breaking by a constant magnetic field in (3+1) dimensions is considered. We use the three flavour Nambu -- Jona-Lasinio type model with 't Hooft and eight-quark interaction terms. It is shown that the multi-quark interactions introduce new additional features to this phenomenon: (a) the local minimum of the effective potential catalyzed by the constant magnetic field is smoothed out with increasing strength of the field at the characteristic scale H~10^{19} G, (b) the multi-quark forces generate independently another local minimum associated with a larger dynamical fermion mass. This state may exist even for multi-quark interactions with a subcritical set of couplings, and is globally stable with respect to a further increase of the magnetic field.Comment: 6 pages, 3 figures, added discussion and references, version to appear in Phys.Lett.

Lime stabilisation for earthworks: a UK perspective

Lime stabilisation is a versatile technique applied during earthworks operations. Modern soil recycling units are much more efficient at pulverising fill material and intermixing the added binder/water than machinery available 20 years ago. While supplier innovation adds flexibility to the site working method, specifications have not been sufficiently updated to permit optimal application. This review paper details the physico-chemical changes instigated through the lime-clay soil reaction, updating previous reviews. It aims to assist scientific debate, current practitioners and future specification changes. For example, the application of the minimum 24 h mellowing periods (mandatory to UK specifications) with high reactivity, quicklime powders is concluded to cause increased air voids in the compacted fill. Increased air voids are associated with reduced long-term strength and potential volume change from water ingress, which is of particular concern for sulfate swelling. Shorter mellowing periods and/or use of hydrated lime may lesson this issue; however, a 'one size fits all' approach is discouraged in preference to site-specific methodologies refined to suit the fill material and project requirements. The discussion also summarises working methods which may lower the risk of sulfate swell and defines areas requiring further practical research

The P446L variant in GCKR associated with fasting plasma glucose and triglyceride levels exerts its effect through increased glucokinase activity in liver

Genome-wide association studies have identified a number of signals for both Type 2 Diabetes and related quantitative traits. For the majority of loci, the transition from association signal to mutational mechanism has been difficult to establish. Glucokinase (GCK) regulates glucose storage and disposal in the liver where its activity is regulated by glucokinase regulatory protein (GKRP; gene name GCKR). Fructose-6 and fructose-1 phosphate (F6P and F1P) enhance or reduce GKRP-mediated inhibition, respectively. A common GCKR variant (P446L) is reproducibly associated with triglyceride and fasting plasma glucose levels in the general population. The aim of this study was to determine the mutational mechanism responsible for this genetic association. Recombinant human GCK and both human wild-type (WT) and P446L-GKRP proteins were generated. GCK kinetic activity was observed spectrophotometrically using an NADP+-coupled assay. WT and P446L-GKRP-mediated inhibition of GCK activity and subsequent regulation by phosphate esters were determined. Assays matched for GKRP activity demonstrated no difference in dose-dependent inhibition of GCK activity or F1P-mediated regulation. However, the response to physiologically relevant F6P levels was significantly attenuated with P446L-GKRP (n = 18; P ≤ 0.03). Experiments using equimolar concentrations of both regulatory proteins confirmed these findings (n = 9; P < 0.001). In conclusion, P446L-GKRP has reduced regulation by physiological concentrations of F6P, resulting indirectly in increased GCK activity. Altered GCK regulation in liver is predicted to enhance glycolytic flux, promoting hepatic glucose metabolism and elevating concentrations of malonyl-CoA, a substrate for de novo lipogenesis, providing a mutational mechanism for the reported association of this variant with raised triglycerides and lower glucose levels

Regional models of the influence of human disturbance and habitat quality on the distribution of breeding territories of common ringed plover Charadrius hiaticula and Eurasian oystercatcher Haematopus ostralegus

We estimated the influence of human disturbance and environmental factors on territory establishment in common ringed plovers Charadrius hiaticula and Eurasian oystercatchers Haematopus ostralegus, to inform the conservation of these species. We examined a 212 km stretch of coastline in the United Kingdom in 2003, mapping all breeding pairs of both study species, as well as the environmental characteristics of beaches and locations of visitors on the beach, the latter measured by filming from a light aircraft. Of the 1,003 200m sections of beach surveyed, 183 contained ringed plover territories (267 breeding pairs) and 117 contained oystercatcher territories (226 breeding pairs). 38,634 human visitors to the beach were mapped from three flights. Population densities of both ringed plovers and oystercatchers were lower in locations with high visitor numbers, even when accounting for the influence of the environmental characteristics of the beach. The two bird species showed similar rates of territory establishment at very low visitor rates, but oystercatchers showed a stronger negative response when visitor rates reached higher levels. Binary logistic regression models were used to identify areas where the birds would benefit most from reductions in the number of visitors and we illustrate how this information could be used to inform management around sites otherwise favourable for territory establishment.We would like to thank Viola Kimmel and Emma Coombes for digitising visitors from the aerial videos, the Tyndall centre, University of East Anglia, for funding the project, and English Nature, the National Trust and Landguard Bird Observatory for supplying some of the bird data (as described in the methods section)