Clinical features of a novel TIMP-3 mutation causing Sorsby's fundus dystrophy: implications for disease mechanism

AIMS: To describe the phenotype in three family members affected by a novel mutation in the gene coding for the enzyme tissue inhibitor of metalloproteinase-3 (TIMP-3). METHODS: Three members of the same family were seen with a history of nyctalopia and visual loss due to maculopathy. Clinical features were consistent with Sorsby's fundus dystrophy. Exon 5 of the gene coding for TIMP-3 was amplified by the polymerase chain reaction, single strand conformation polymorphism analysis undertaken and exon 5 amplicons were directly sequenced. RESULTS: Onset of symptoms was in the third to fourth decade. Five of six eyes had geographic macular atrophy rather than neovascularisation as a cause for central visual loss. Peripheral retinal pigmentary disturbances were present. Scotopic ERGs were abnormal in all three. Mutation analysis showed a GT transversion in all three resulting in a premature termination codon, E139X, deleting most of the carboxy terminal domain of TIMP-3. CONCLUSIONS: The patients described had a form of Sorsby's fundus dystrophy which fell at the severe end of the spectrum of this disease. Postulated disease mechanisms include deposition of dimerised TIMP-3 protein

Finding optimal strategies for minimum-error quantum-state discrimination

We propose a numerical algorithm for finding optimal measurements for quantum-state discrimination. The theory of the semidefinite programming provides a simple check of the optimality of the numerically obtained results.Comment: 4 pages, 2 figure

Lesbian and bisexual women's experiences of sexuality-based discrimination and their appearance concerns

Lesbian and bisexual women frequently experience sexuality-based discrimination, which is often based on others' judgements about their appearance. This short article aims to explore whether there is a relationship between lesbian and bisexual women's experiences of sexuality-based discrimination and their satisfaction with the way that they look. Findings from an online survey suggest that discrimination is negatively related to appearance satisfaction for lesbian women, but not for bisexual women. It is argued that this difference exists because lesbian appearance norms are more recognisable and distinctive than bisexual women's appearance norms

Optimal discrimination of mixed quantum states involving inconclusive results

We propose a generalized discrimination scheme for mixed quantum states. In the present scenario we allow for certain fixed fraction of inconclusive results and we maximize the success rate of the quantum-state discrimination. This protocol interpolates between the Ivanovic-Dieks-Peres scheme and the Helstrom one. We formulate the extremal equations for the optimal positive operator valued measure describing the discrimination device and establish a criterion for its optimality. We also devise a numerical method for efficient solving of these extremal equations.Comment: 5 pages, 1 figur

Blast Quantification Using Hopkinson Pressure Bars

Near-field blast load measurement presents an issue to many sensor types as they must endure very aggressive environments and be able to measure pressures up to many hundreds of megapascals. In this respect the simplicity of the Hopkinson pressure bar has a major advantage in that while the measurement end of the Hopkinson bar can endure and be exposed to harsh conditions, the strain gauge mounted to the bar can be affixed some distance away. This allows protective housings to be utilized which protect the strain gauge but do not interfere with the measurement acquisition. The use of an array of pressure bars allows the pressure-time histories at discrete known points to be measured. This article also describes the interpolation routine used to derive pressure-time histories at un-instrumented locations on the plane of interest. Currently the technique has been used to measure loading from high explosives in free air and buried shallowly in various soils

Identification and control of a multiplace hyperbaric chamber

[EN] This work presents the automation of a multiplace hyperbaric chamber. It includes the system modeling, identification, controller calculation and system validation. With the proposed approach a good pressure profile tracking and repeatability are achieved. Moreover, the proposed automation includes the implementation of powerful treatment tools such as Pause and Alleviation procedures. The control system implemented is based on a special zero-pole cancellation regulator. Experimental results are provided to illustrate the behavior of the automated chamber. It is important to remark that the chamber automated in this work is being successfully used in a real hospital since 2015 treating more than 40 patients per day, five days a week.The authors would like to thanks MEDIBAROX (unit of the Perpetuo Socorro Hospital) and the "Catedra de Medicina Hiperbarica" of the Miguel Hernandez University for their support and for finally implementing the control law described in this article. The authors would also like to thank Francisco Aracil Meseguer for his help with the chamber 3D modeling.Gracia Calandin, LI.; Perez-Vidal, C.; De Paco, JM.; De Paco, LM. (2018). Identification and control of a multiplace hyperbaric chamber. PLoS ONE. 13(8):1-23. https://doi.org/10.1371/journal.pone.0200407S12313

Regression and the Maternal in the History of Psychoanalysis, 1900-1957

This paper examines the history of the concept of ‘regression’ as it was perceived by Sandor Ferenczi and some of his followers in the first half of the twentieth century. The first part provides a short history of the notion of ‘regression’ from the late nineteenth century to Ferenczi's work in the 1920s and 1930s. The second and third parts of the paper focus on two other thinkers on regression, who worked in Britain, under the influence of the Ferenczian paradigm – the interwar Scottish psychiatrist, Ian D. Suttie; and the British-Hungarian psychoanalyst, and Ferenczi's most important pupil, Michael Balint. Rather than a descriptive term which comes to designate a pathological mental stage, Ferenczi understood ‘regression’ as a much more literal phenomenon. For him, the mental desire to go backwards in time is a universal one, and a consequence of an inevitable traumatic separation from the mother in early childhood, which has some deep personal and cultural implications. The paper aims to show some close affinities between the preoccupation of some psychoanalysts with ‘regression’, and the growing interest in social and cultural aspects of ‘motherhood’ and ‘the maternal role’ in mid-twentieth-century British society

Velocity-space sensitivity of the time-of-flight neutron spectrometer at JET

The velocity-space sensitivities of fast-ion diagnostics are often described by so-called weight functions. Recently, we formulated weight functions showing the velocity-space sensitivity of the often dominant beam-target part of neutron energy spectra. These weight functions for neutron emission spectrometry (NES) are independent of the particular NES diagnostic. Here we apply these NES weight functions to the time-of-flight spectrometer TOFOR at JET. By taking the instrumental response function of TOFOR into account, we calculate time-of-flight NES weight functions that enable us to directly determine the velocity-space sensitivity of a given part of a measured time-of-flight spectrum from TOFOR

Search for leptophobic Z ' bosons decaying into four-lepton final states in proton-proton collisions at root s=8 TeV

Peer reviewe

Search for black holes and other new phenomena in high-multiplicity final states in proton-proton collisions at root s=13 TeV

Peer reviewe