e-Prints Soton

    Central serous chorioretinopathy: An update on risk factors, pathophysiology and imaging modalities

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    Central serous chorioretinopathy (CSC) is a common form of vision loss, typically seen in working-age men. The pathophysiology behind CSC still eludes us, however significant advances have been made in understanding this disease over the last decade using information from genetic and cell-based studies and imaging modalities. This review aims to give an overview of the current pathophysiology hypotheses surrounding CSC in addition to future directions in cellular work from human induced pluripotent stem cell derived choroidal endothelial cells from CSC patients. Furthermore, this review will provide the reader with an update on the clinical aspects of CSC including risk factors, diagnostic challenges and findings from multimodal imaging

    Performance evaluation of a compact 10-GHz pulse compressor based on a highly nonlinear Bismuth-Oxide fibre

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    There are a variety of mode-locked lasers suitable for telecommunications applications capable of generating picosecond-long pulses at high repetition rates. Although the direct generation of even shorter pulses at such high rates is possible it is generally considered far easier to compress the pulses of mode-locked lasers when sub-picosecond pulses are required. However, this can lead to problems in terms of pulse synchronisation and stability as km scale lengths of dispersion shifted or highly nonlinear silica fibre are typically needed. In this paper, a pulse compressor operating at 10GHz is realized using just 2 meters of a connectorized Bismuth-Oxide highly-nonlinear fibre (Bi-HNLF). We further present the complete phase and intensity characterisation of the compressed pulses using a linear form of Frequency-Resolved Optical Gating (L-FROG) [1] based on a commercially available lithium niobate modulator

    Mosaic maternal uniparental disomy of chromosome 11 in a patient with Silver-Russell syndrome

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    Silver-Russell syndrome (SRS) is a clinically heterogeneous disorder characterised mainly by intrauterine and postnatal growth retardation. While maternal uniparental disomy of chromosome 7 is found in 5-10% of SRS patients, recently genetic and epigenetic mutations affecting the imprinting centres on chromosome 11p15 have been reported in up to 64% of patients. Chromosome 11p15 abnormalities reported in SRS include methylation defects in the imprinting centre 1 (ICR1) and maternally inherited duplications involving all or part of the imprinted region of 11p15. Here we report the first published case of SRS with mosaic maternal uniparental disomy of chromosome 11

    Towards high-power on-chip GHz frequency combs

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    In this paper we present on-chip mode-locked waveguide lasers fabricated in Yb-doped phosphate glass and Er, Yb doped phosphate glass. At 1 micron wavelength, pulse repetition rates of up to 15 GHz with pulses ~800 fs were demonstrated and at 1.5 micron, picosecond pulses with a repetition rate up to 7 GHz were demonstrated. Dispersion was controlled in the cavity by varying the spacing between the waveguide and the SESAM, while the repetition rate could be controlled by varying the optical power. The average power can also be scaled using an integrated optical amplifier and on-chip gain of up to 10 dB was demonstrated. All these individual components can be integrated in a single platform to achieve a high-power on-chip multi-GHz optical frequency comb. Furthermore, we discuss an application of such laser sources in high-capacity telecommunications applications

    CHROMSCAN: genome-wide association using a linkage disequilibrium map

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    CHROMSCAN implements a composite likelihood model for the analysis of association data. Disease-gene localisation is on a linkage disequilibrium unit (LDU) map, and locations and standard errors, for putatively causal polymorphisms, are determined by the programme. Distortions of the probability distribution created by auto-correlation are avoided by implementation of a permutation test. We evaluated the relative efficiency of the LDU map by simulating pseudo-phenotypes in real genotype samples. We observed that multi-locus mapping on an underlying LDU map reduces location error by approximately 46%. Furthermore, there is a small, but significant, increase in power of approximately 5%. Effective meta-analysis across multiple samples, increasingly important to combine evidence from genome-wide and other association data, is achieved through the weighted combination of location evidence provided by the programme

    Translocations of 14q32 and deletions of 13q14 are common chromosomal abnormalities in systemic amyloidosis

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    Systemic monoclonal immunoglobulin light chain amyloidosis (AL) is associated with clonal plasma cell dyscrasias that are often subtle and non-proliferating. AL shares numerical chromosomal changes with multiple myeloma (MM) and monoclonal gammopathy of undetermined significance (MGUS). Illegitimate translocations involving the immunoglobulin heavy chain gene (IGH) at 14q32 and deletions of the long arm of chromosome 13, [del(13q)], commonly occur in MM, MGUS and plasma cell leukaemia. In AL IGH rearrangements have been identified but, to date, there are no reports of del(13q). In this study of 32 patients with AL, 24 with systemic and eight with localized disease, translocations involving IGH and del(13q) were found using dual-colour interphase fluorescence in situ hybridization (FISH). IGH translocations were observed in 11 patients (37% overall and in 46% with systemic disease), of which nine had the IGH/CCND1 fusion from t(11;14)(q13;q32). Two showed IGH translocations other than the t(11;14) or t(4;14)(p16;q32). In one of these patients a breakpoint within the constant region of IGH between Calpha1 and Calpha2 was indicated. In the second a deletion covering Calpha1 and Calpha2 accompanied the translocation. Ten patients (27% overall and 33% of those with systemic disease) showed del(13q). The gain or loss of IGH and CCND1 signals provided evidence of numerical chromosomal changes in three patients

    Lagrangian decomposition of the Deacon Cell

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    The meridional overturning cells in the Southern Ocean are decomposed by Lagrangian tracing using velocity and density fields simulated with an ocean general circulation model. Particular emphasis is given to the Deacon Cell. The flow is divided into four major components: (1) water circling around Antarctica in the Antarctic Circumpolar Current (ACC), (2) water leaving the ACC toward the north into the three world oceans, (3) water coming from the north and joining the ACC, mainly consisting of North Atlantic Deep Water (NADW), and (4) interocean exchange between the three world oceans without circling around Antarctica. The Deacon Cell has an amplitude of 20 Sv, of which 6 Sv can be explained by the east-west tilt of the ACC, 5 Sv by the east-west tilt of the subtropical gyre, and the remaining 9 Sv by the differences of the slope and depth of the southward transport of NADW and its return flow as less dense water. The diabatic or cross-isopycnal Deacon Cell is only 2 Sv

    Viral infection as a regulator of oceanic phytoplankton populations

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    Viruses are the most abundant organism in seawater across all the world's oceans. Though they are believed to be capable of infecting all phytoplankton species their role in regulating plankton population levels is not well understood. In order to gain an understanding of the potential influence of viruses on phytoplankton population dynamics, particularly ‘blooms’, two plankton ecosystem models with explicit representation of viruses and virally infected phytoplankton are presented, and an initial investigation into their range of behaviours explored. The models are extensions of well-established plankton ecosystem models that now permit the possibility of viral infection and mortality of phytoplankton. Ecological and epidemiological parameters from a number of sources are used to furnish the models. The models are shown to be capable of capturing known features of phytoplankton population dynamics in the presence of viruses: viruses can stably co-exist in the plankton ecosystem without the need to invoke other stabilising processes, and infection can serve to suppress primary production and phytoplankton abundance whilst boosting nutrient levels. Intuitively, viral infection will be most effective when phytoplankton is high. We therefore use the two models to investigate the influence of viral infection on ‘blooms’ in two independent ways: first with a seasonally-forced variability and second with a triggered transient event. It is demonstrated that the impact of viruses can be very noticeable during episodes of enhanced phytoplankton density found during ’blooms’. Viruses serve to attenuate the intensity and duration of these transient events in a manner consistent with observations

    The bicyclid depsipeptide family of histone deacetylase

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