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Background: Inherited retinal degenerations (IRDs) encompass a wide spectrum of genetic ocular diseases characterized by considerable genetic and clinical heterogeneity. Methods: Complete ophthalmic examination and next-generation sequencing. Results: We describe a patient with no family history of vision loss, who at the age of 28 years developed visual impairment consistent with a severe form of

We study a random surface representation of Wilson loops in Z(2) gauge theory. The weights consist of an area factor, which dominates at strong coupling, and an excluded volume factor flavouring crumpled surfaces. We examine the latter one in some detail in three as well as four dimensions by use of Monte Carlo methods. In three dimensions, the critical behaviour of the surfaces is found to be det

A Great Tit Parus major without any yellow pigment in the plumage was ringed in southern Swedish Lapland in 2006. Such pale birds are known to appear with a low frequency throughout the species’ range. Superficially they look like the eastern (sub)species Parus (major) minor. The focal bird was a yearling with a wing length well above that of minor so there is no reason to suspect eastern origin.

To outline further genetic mechanisms of transformation from follicular lymphoma (FL) to diffuse large B-cell lymphoma (DLBCL), we have performed whole genome array-CGH in 81 tumors from 60 patients [29 de novo DLBCL (dnDLBCL), 31 transformed DLBCL (tDLBCL), and 21 antecedent FL]. In 15 patients, paired tumor samples (primary FL and a subsequent tDLBCL) were available, among which three possessed

We present experimental results of harmonic generation using a 1-ps 1015-W/cm2 Nd-glass laser. We see up to the 29th harmonic in Xe, 57th in Ar, and at least up to the 135th harmonic in Ne (160 eV), being then limited by our monochromator's resolution. The conversion efficiencies in Xe, Ar, Ne, and He are compared and different ways of optimizing the number of photons by defocusing the laser beam

This paper explores different syntactic variations and functional properties of clausal units that are initiated by the finite verb in Swedish. We focus on V1 constructions that are basically declarative in function, thus excluding interrogative, conditional and directive uses. Because V1 constructions, and particularly certain variants of them, are typical of spoken Swedish, our examples and

A model for foot skin temperature prediction was evaluated on the basis of 2 experiments on subjects at various environmental temperatures (light seated manual work at -10.7 °C (Study 1), and a short walking period in combination with standing and sitting at +2.8 °C, -11.8 °C and -24.6 °C (Study 2), with boots of 3 insulation levels. Insulation of the footwear was measured on a thermal foot model.

This paper discusses control of dissolved oxygen in a bioreactor when the stirrer speed is used as control signal. During batch and fed-batch cultivations the operating conditions change significantly which causes tuning problems, especially when performance requirements are high. A linearized process model reveals that the variations in the oxygen dynamics are mainly due to changes in the volumet

A decomposition of the field of the wave equation in three dimensions is suggested. This wave splitting decomposes the field into two components such that in free space simple propagation properties are obtained. The inhomogeneous region is assumed to have a phase velocity variation that varies only in the radial coordinate r from the origin. The suggested wave splitting is a generalization of the

This paper reminds the analog designer of the possible stability problems encountered when simulating strongly resonating circuits in the time domain. The warping of circuit pole positions in different numerical integration algorithms is reviewed, and it is shown that all time domain simulation algorithms suffer from this effect, including Simulink, time-domain steady-state, and a harmonic balance

The aim of the study was to investigate, over time, the incidence of and mortality due to malignant diseases among persons with haemophilia, compared to matched controls. Persons with haemophilia A or B were enrolled via registries at each haemophilia centre, as well as from the National Patient Registry, and were compared to five sex and age-matched controls per patient. Data from the national Ca

Numerous auto-scaling strategies have been proposed in the past few years for improving various Quality of Service (QoS) indicators of cloud applications, for example, response time and throughput, by adapting the amount of resources assigned to the application to meet the workload demand. However, the evaluation of a proposed auto-scaler is usually achieved through experiments under specific cond