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Thirty-nine members, ages 1 to 67 years, of a Swedish family with rippling muscle disease (RMD) were investigated to assess genotype phenotype correlations. Clinical, neurophysiological, and muscle morphological examinations were performed. Genetic analysis was performed in 38 individuals. Twenty-three patients had percussion-induced muscle mounding (PIMM) and percussion-induced rapid contractions
The molecular motor dynein and its associated regulatory subunit dynactin have been implicated in several neurodegenerative conditions of the basal ganglia, such as Huntington's disease (HD) and Perry syndrome, an atypical Parkinson-like disease. This pathogenic role has been largely postulated from the existence of mutations in the dynactin subunit p150(Glued). However, dynactin is also able to a
A search for high-mass resonances decaying into tau(+)tau(-) final states using proton-proton collisions at root s = 8 TeV produced by the Large Hadron Collider is presented. The data were recorded with the ATLAS detector and correspond to an integrated luminosity of 19.5-20.3 fb(-1). No statistically significant excess above the Standard Model expectation is observed; 95% credibility upper limits
BACKGROUND AND PURPOSE: In failed total ankle replacements (TARs), fusion is often the procedure of preference; the outcome after exchanging prosthetic components is debated. We analyzed prosthetic survival, self-reported function, and patient satisfaction after component exchange. Patients and methods We identified patients in the Swedish Ankle Registry who underwent exchange of a tibial and/or t
Although it is known that lead is a neurotoxin that negatively impacts cognitive functions at low blood concentrations (B-Pb), little is known about the impact of early exposure on later cognitive functions.
Hematopoietic stem cells (HSCs) reside and self-renew in the bone marrow (BM) niche. Overall, the signaling that regulates stem cell dormancy in the HSC niche remains controversial. Here, we demonstrate that TGF-beta type II receptor-deficient HSCs show low-level Smad activation and impaired long-term repopulating activity, underlining the critical role of TGF-beta/Smad signaling in HSC maintenanc
In experiments investigating dynamic tasks, it is often useful to examine eye movement scan patterns. We can present trials repeatedly and compute within-subjects/conditions similarity in order to distinguish between signal and noise in gaze data. To avoid obvious repetitions of trials, filler trials must be added to the experimental protocol, resulting in long experiments. Alternatively, trials c
Two years of harmonized aerosol number size distribution data from 24 European field monitoring sites have been analysed. The results give a comprehensive overview of the European near surface aerosol particle number concentrations and number size distributions between 30 and 500 nm of dry particle diameter. Spatial and temporal distribution of aerosols in the particle sizes most important for cli
The aim of this study was to examine potential risk factors for GCA in a nested case-control study based on two prospective health surveys.
A search for the pair production of heavy leptons (N-0, L-+/-) predicted by the type-III seesaw theory formulated to explain the origin of small neutrino masses is presented. The decay channels N-0 -> W(+/-)l(+/-) (l = e, mu, tau) and L-+/- -> W(+/-)v (v = v(e), v(mu), v(tau)) are considered. The analysis is performed using the final state that contains two leptons (electrons or muons), two jets f
Families of generalized spatially-coupled low-density parity-check (GSC-LDPC) code ensembles can be formed by terminating protograph-based generalized LDPC convolutional (GLDPCC) codes. It has previously been shown that ensembles of GSC-LDPC codes constructed from a protograph have better iterative decoding thresholds than their block code counterparts, and that, for large termination lengths, the
PURPOSE: Filter exchange imaging (FEXI) is sensitive to the rate of diffusional water exchange, which depends, eg, on the cell membrane permeability. The aim was to optimize and analyze the ability of FEXI to infer differences in the apparent exchange rate (AXR) in the brain between two populations.METHODS: A FEXI protocol was optimized for minimal measurement variance in the AXR. The AXR variance
Using a simple model of strong-field ionization of atoms that generalizes the well-known 3-step model from 1D to 3D, we show that the experimental photoelectron angular distributions resulting from laser ionization of xenon and argon display prominent structures that correspond to electrons that pass by their parent ion more than once before strongly scattering. The shape of these structures can b
We hypothesize that because fast-growing young companies must raise money in private capital markets that contain significant financing frictions, the CEOs of such firms will be compensated for successful fundraising. Using a sample of 1585 private venture-backed U.S. firms, we find that the cash pay of entrepreneur-CEOs is increasing in both the quantity and quality of financing secured and is mo
Fast electron transport in Si, driven by ultraintense laser pulses, is investigated experimentally and via 3D hybrid particle-in-cell simulations. A transition from a Gaussian-like to an annular fast electron beam profile is demonstrated and explained by resistively generated magnetic fields. The results highlight the potential to completely transform the beam transport pattern by tailoring the re
The aims of this study were to investigate (1) perceived stress as felt by the nursing staff working in psychiatric inpatient care, (2) possible differences between nurses and nurse assistants, and (3) associations among individual characteristics, the ward atmosphere, the psychosocial work environment, and perceived stress. Ninety-three members of the nursing staff completed three instruments-one
Nano-scale alloy systems with at least one dimension below 100 nm have different phase stabilities than those observed in the macro-scale systems due to a large surface to volume ratio. We have used the semi-empirical thermodynamic modelling, i.e. the CALPHAD method, to predict the phase equilibria of the In-Sb nano-scale systems as a function of size and shape. To calculate the size- and shape-de
Methods: A randomized, double-blind, active-comparator study of patients with type 2 diabetes mellitus inadequately controlled (HbA1c 6.5-8.5%) by metformin monotherapy. Patients received vildagliptin (50 mg twice daily) or glimepiride (up to 6 mg/day) added to metformin. Results: In all, 3118 patients were randomized (vildagliptin, n = 1562; glimepiride, n = 1556). From similar baseline values (7
In this work, we present a method for estimating the parameters detailing an unknown number of linear, possibly harmonically related, chirp signals, using an iterative sparse reconstruction framework. The proposed method is initiated by a re-weighted group-sparsity approach, followed by an iterative relaxation-based refining step, to allow for high resolution estimates. Numerical simulations illus
