Background We aimed to accurately estimate the frequency of a hexanucleotide repeat expansion in C9orf72 that has been associated with a large proportion of cases of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Methods We screened 4448 patients diagnosed with ALS (El Escorial criteria) and 1425 patients with FTD (Lund-Manchester criteria) from 17 regions worldwide for the

The role of cholesterol differs in the two compartments of the testis. In the interstitial tissue, cholesterol is necessary for the synthesis of testosterone, whereas in the seminiferous tubules, membrane cholesterol content in developing germ cells will influence the gametes' fertility. Here we evaluate the hormone-sensitive lipase (HSL) modulation of the cholesterol metabolism in each compartmen

We found that engagement of beta 2 integrins on human neutrophils increased the levels of GTP-bound Rap1 and Rap2. Also, the activation of Rap1 was blocked by PP1, SU6656, LY294002, GF109203X, or BAPTA-AM, which indicates that the downstream signaling events in Rap1 activation involve Src tyrosine kinases, phosphoinositide 3-kinase, protein kinase C, and release of calcium. Surprisingly, the beta

Mutualists have been suggested to play an important role in the assembly of many plant and animal communities, but it is not clear how this depends on environmental factors. Do, for instance, natural disturbances increase or decrease the role of mutualism? We focused on entire guilds of mutualists, studying seed-dispersing ants and ant-dispersed plants along gradients of inundation disturbances. W

This is the first report of the International Continence Society (ICS) on the development of comprehensive guidelines for Good Urodynamic Practice for the measurement, quality control, and documentation of urodynamic investigations in both clinical and research environments. This report focuses on the most common urodynamics examinations; uroflowmetry, pressure recording during filling cystometry,

Using bulk tissue and fatty acid 13C analysis we investigated major trophic pathways from soil microorganisms to microbial consumers to predators in conventional versus organic farming systems planted for the first time with maize. Organic farming led to an increase in microbial biomass in particular that of fungi as indicated by phospholipid fatty acids (PLFAs). Microbial PLFAs reflected the conv

Objective: Roquinimex is a modulator of the immune system and has been shown to attenuate induction of several inflammatory and autoimmune diseases. The objective of the present study was to determine the efficacy of roquinimex in a model of murine colitis. Materials and methods: For this purpose, Balb/c mice were exposed to 5% dextran sodium sulfate (DSS) in the drinking water for five to six day

Acute otitis media (AOM), one of the most common childhood diseases, is associated with a substantial medical, social and economic burden. Non-typeable Haemophilus influenzae (NTHi) and Streptococcus pneumoniae are the two main causes of bacterial OM. The 7-valent pneumococcal CRM197-conjugate vaccine (7vCRM, Prevnar (TM)/Prevenar (TM), Wyeth) demonstrated efficacy against AOM caused by vaccine pn

Translocation of STIM1 and STIM2 from the endoplasmic reticulum to the plasma membrane is a key step in store-operated calcium entry in the cell. We show by isothermal titration calorimetry that calmodulin binds in a calcium-dependent manner to the polybasic C-termini of STIM1 and STIM2, a region critical for their translocation to the plasma membrane ( K D

Although dic(9;20)(p13.2;q11.2) is a characteristic abnormality in childhood B-cell precursor acute lymphoblastic leukemias (BCP ALL), little is known about its clinical impact or the type and frequency of additional aberrations it may occur together with. We here review the clinical and cytogenetic features of a Nordic pediatric series of 24 patients with dic(9;20)-positive BCP ALL diagnosed 1996

Although there is abundant evidence that hyperglucagonaemia plays a key role in the development of hyperglycaemia in type 2 diabetes, efforts to understand and correct this abnormality have been overshadowed by the emphasis on insulin secretion and action. However, recognition that the incretin hormone glucagon-like peptide-1 (GLP-1) exerts opposing effects on glucagon and insulin secretion has re

Background: Good glycaemic control is crucial in reducing the risk of diabetes-related complications. Despite the availability of evidence-based treatment guidelines, glycaemic control appears to remain suboptimal in most countries. Objectives: In this commentary we outline the extent to which diabetes guideline targets on HbA(1c) are being met in clinical practice and - where targets are being mi

To examine the possible roles of glutamate and aspartate as neurotransmitters in the nucleus submedius (Sm) of rats, the distributions of these amino acids were examined by electron microscopic immunogold labeling. High levels of glutamate were detected in trigeminothalamic tract terminals anterogradely labeled with horseradish peroxidase conjugates. These terminals also displayed a positive corre

Mechanical modeling and dynamic mechanical analysis were associated to investigate the viscoelastic properties of an alkyd acrylic hybrid system in connection with its morphology, which was characterized by transmission electron microscopy. Theoretical predictions based on the interlayer model used in direct mode were successfully combined with the experimental viscoelastic data to lead to relevan

We present results of Monte Carlo computer simulations of a coarse-grained hydrophobic-polar G (o) over bar -like heteropolymer model and discuss thermodynamic properties and kinetics of an exemplified heteropolymer, exhibiting two-state folding behavior. It turns out that general, characteristic folding features of realistic proteins with a single free-energy barrier can also be observed in this