The neuronopathic forms of the human inherited metabolic disorder, Gaucher disease (GD), are characterized by severe neuronal loss, astrogliosis and microglial proliferation, but the cellular and molecular pathways causing these changes are not known. Recently, a mouse model of neuronopathic GD was generated in which glucocerebrosidase deficiency is limited to neural and glial progenitor cells. We

Genome-wide association studies have revealed >60 loci associated with type 2 diabetes (T2D), but the underlying causal variants and functional mechanisms remain largely elusive. Although variants in TCF7L2 confer the strongest risk of T2D among common variants by presumed effects on islet function, the molecular mechanisms are not yet well understood. Using RNA-sequencing, we have identified a TC

Fast algorithms for unequally spaced discrete Laplace transforms are presented. The algorithms are approximate up to a prescribed choice of computational precision, and they employ modified versions of algorithms for unequally spaced fast Fourier transforms using Gaussians. Various configurations of sums with equally and unequally spaced points can be dealt with. In contrast to previously presente

Recent Genome-Wide Association Studies (GWAS) have pinpointed different single nucleotide polymorphisms consistently associated with blood pressure (BP) and hypertension prevalence. However, little data exist regarding single nucleotide polymorphisms predicting BP variation over time and hypertension incidence. The aim of this study was to confirm the association of a genetic risk score (GRS), bas

Background: Most reports of Rapid Response Systems (RRS) focus on the efferent, response component of the system, although evidence suggests that improved vital sign monitoring and recognition of a clinical crisis may have outcome benefits. There is no consensus regarding how best to detect patient deterioration or a clear description of what constitutes patient monitoring. Methods: A consensus co

Objective: To compare survival times of HIV-1 single and HIV-1 and HIV-2 dual-infected individuals. Design: Prospective open cohort study. Methods: We analysed data from 259 HIV-1-seroincident cases (either HIV-1 single or HIV-1 and HIV-2 dual-infected) from a cohort with long follow-up (similar to 20 years) in order to study the influence of type of infection and infection order on mortality. Sex

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