1,069 research outputs found

    The novel MAPT mutation K298E:mechanisms of mutant tau toxicity, brain pathology and tau expression in induced fibroblast-derived neurons

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    Frontotemporal lobar degeneration (FTLD) consists of a group of neurodegenerative diseases characterized by behavioural and executive impairment, language disorders and motor dysfunction. About 20-30 % of cases are inherited in a dominant manner. Mutations in the microtubule-associated protein tau gene (MAPT) cause frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17T). Here we report a novel MAPT mutation (K298E) in exon 10 in a patient with FTDP-17T. Neuropathological studies of post-mortem brain showed widespread neuronal loss and gliosis and abundant deposition of hyperphosphorylated tau in neurons and glia. Molecular studies demonstrated that the K298E mutation affects both protein function and alternative mRNA splicing. Fibroblasts from a skin biopsy of the proband taken at post-mortem were directly induced into neurons (iNs) and expressed both 3-repeat and 4-repeat tau isoforms. As well as contributing new knowledge on MAPT mutations in FTDP-17T, this is the first example of the successful generation of iNs from skin cells retrieved post-mortem

    Polymorphisms of the Flavin containing monooxygenase 3 (FMO3) gene do not predispose to essential hypertension in Caucasians.

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    BACKGROUND: The recessive disorder trimethylaminuria is caused by defects in the FMO3 gene, and may be associated with hypertension. We investigated whether common polymorphisms of the FMO3 gene confer an increased risk for elevated blood pressure and/or essential hypertension. METHODS: FMO3 genotypes (E158K, V257M, E308G) were determined in 387 healthy subjects with ambulatory systolic and diastolic blood pressure measurements, and in a cardiovascular disease population of 1649 individuals, 691(41.9%) of whom had a history of hypertension requiring drug treatment. Haplotypes were determined and their distribution noted. RESULTS: There was no statistically significant association found between any of the 4 common haplotypes and daytime systolic blood pressure in the healthy population (p = 0.65). Neither was a statistically significant association found between the 4 common haplotypes and hypertension status among the cardiovascular disease patients (p = 0.80). CONCLUSION: These results suggest that the variants in the FMO3 gene do not predispose to essential hypertension in this population

    On the modulation instability development in optical fiber systems

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    Extensive numerical simulations were performed to investigate all stages of modulation instability development from the initial pulse of pico-second duration in photonic crystal fiber: quasi-solitons and dispersive waves formation, their interaction stage and the further propagation. Comparison between 4 different NLS-like systems was made: the classical NLS equation, NLS system plus higher dispersion terms, NLS plus higher dispersion and self-steepening and also fully generalized NLS equation with Raman scattering taken into account. For the latter case a mechanism of energy transfer from smaller quasi-solitons to the bigger ones is proposed to explain the dramatical increase of rogue waves appearance frequency in comparison to the systems when the Raman scattering is not taken into account.Comment: 9 pages, 54 figure

    Quantum Dynamics in Non-equilibrium Strongly Correlated Environments

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    We consider a quantum point contact between two Luttinger liquids coupled to a mechanical system (oscillator). For non-vanishing bias, we find an effective oscillator temperature that depends on the Luttinger parameter. A generalized fluctuation-dissipation relation connects the decoherence and dissipation of the oscillator to the current-voltage characteristics of the device. Via a spectral representation, this result is generalized to arbitrary leads in a weak tunneling regime.Comment: 4 pages, 1 figur

    Quantum theory of electromechanical noise and momentum transfer statistics

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    A quantum mechanical theory is developed for the statistics of momentum transferred to the lattice by conduction electrons. Results for the electromechanical noise power in the semiclassical diffusive transport regime agree with a recent theory based on the Boltzmann-Langevin equation. All moments of the transferred momentum are calculated for a single-channel conductor with a localized scatterer, and compared with the known statistics of transmitted charge.Comment: 10 pages, 2 figure

    Spectral compression of single photons

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    Photons are critical to quantum technologies since they can be used for virtually all quantum information tasks: in quantum metrology, as the information carrier in photonic quantum computation, as a mediator in hybrid systems, and to establish long distance networks. The physical characteristics of photons in these applications differ drastically; spectral bandwidths span 12 orders of magnitude from 50 THz for quantum-optical coherence tomography to 50 Hz for certain quantum memories. Combining these technologies requires coherent interfaces that reversibly map centre frequencies and bandwidths of photons to avoid excessive loss. Here we demonstrate bandwidth compression of single photons by a factor 40 and tunability over a range 70 times that bandwidth via sum-frequency generation with chirped laser pulses. This constitutes a time-to-frequency interface for light capable of converting time-bin to colour entanglement and enables ultrafast timing measurements. It is a step toward arbitrary waveform generation for single and entangled photons.Comment: 6 pages (4 figures) + 6 pages (3 figures

    Does race impact functional outcomes in patients undergoing robotic partial nephrectomy?

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    Background: The role of race on functional outcomes after robotic partial nephrectomy (RPN) is still a matter of debate. We aimed to evaluate the clinical and pathologic characteristics of African American (AA) and Caucasian patients who underwent RPN and analyzed the association between race and functional outcomes. Methods: Data was obtained from a multi-institutional database of patients who underwent RPN in 6 institutions in the USA. We identified 999 patients with complete clinical data. Sixty-three patients (6.3%) were AA, and each patient was matched (1:3) to Caucasian patients by age at surgery, gender, Charlson Comorbidity Index (CCI) and renal score. Bivariate and multivariate logistic regression analyses were used to evaluate predictors of acute kidney injury (AKI). Kaplan-Meier method and multivariable semiparametric Cox regression analyses were performed to assess prevalence and predictors of significant eGFR reduction during follow-up. Results: Overall, 252 patients were included. AA were more likely to have hypertension (58.7% Conclusions: Although African American patients were more likely to have hypertension, renal function outcomes of robotic partial nephrectomies were not significantly different when stratified by race. However, future studies with larger cohorts are necessary to validate these findings

    Theory of extraordinary optical transmission through subwavelength hole arrays

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    We present a fully three-dimensional theoretical study of the extraordinary transmission of light through subwavelength hole arrays in optically thick metal films. Good agreement is obtained with experimental data. An analytical minimal model is also developed, which conclusively shows that the enhancement of transmission is due to tunneling through surface plasmons formed on each metal-dielectric interfaces. Different regimes of tunneling (resonant through a ''surface plasmon molecule", or sequential through two isolated surface plasmons) are found depending on the geometrical parameters defining the system.Comment: 4 pages, 4 figure
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