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The recent identification of fragile X-associated tremor ataxia syndrome (FXTAS) associated with premutations in the FMR1 gene and the possibility of clinical overlap with multiple system atrophy (MSA) has raised important questions, such as whether genetic testing for FXTAS should be performed routinely in MSA and whether positive cases might affect the specificity of current MSA diagnostic crite

The hottest developments in the fields of cancer research, neuroscience, genomics and proteomics, anti-virals and more, with a pick of the key research papers in these areas.

We report the sequence and expression analysis of two new Drosophila members of the Semaphorin family. Both proteins show the presence of Semaphorin domains and transmembrane domains. Both genes are expressed maternally and in embryos, and reveal distinct expression patterns much earlier than the onset of neurogenesis. We also present an overview of the domain structure of all so far known semapho

The present work deals with the use of a digital thruster (DT) for the separation of cadmium and lead metals from mixture samples. Mixtures of lead and cadmium salts with varying concentrations were injected into a free electrolytic diffusion apparatus (FEDA). The microcathodes surrounding the central anode were programmed witha DT. The DT distributed the charge over the microcathodes at time inte

Human endogenous retroviruses (HERVs) are estimated to represent at least 1% of the human genome. An HERV-H env SU sequence (HERV-H19) was used to screen the high-throughput (htgs) and nonredundant (nr) databases for other HERV-H SU open reading frames (ORFs) and thus possible functional proteins. Using PCR with primers derived from HERV-H19 SU, we also obtained several new sequences with ORFs fro

In 1994, the Malmo-Klaipeda twinning programme was approved by the World Federation of Hemophilia. One of the first steps in the collaboration has been to set up a registry of the haemophilia patients in the Klaipeda area. In order to collect important clinical data the patients have been examined jointly by experts on haemophilia from the two centres. Seventeen out of 25 patients with severe haem

To investigate the relationship between the individual thrombin-cleavages in factor V (FV) and the generation of FXa-cofactor activity, recombinant FV mutants having the cleavage sites eliminated separately or in combination were used. After thrombin incubation, the ability of the FV variants to bind FXa and support prothrombin activation was tested. The interaction between FVa and FXa on the surf

Objective: To determine whether the polymorphisms in aryl hydrocarbon receptor (AHR), aryl hydrocarbon receptor repressor (AHRR), and aryl hydrocarbon receptor nuclear translocator (ARNT) genes are associated with male factor infertility. Design: An association study. Setting: University research laboratory and andrology clinic. Patient(s): The subjects were infertile Estonian men (n = 112) with a

Cyclooctene (C8H14, cot) complexes of platinum(II) have been synthesised and characterised by means of multinuclear NMR, UV-Vis spectroscopy and X-ray crystallography. The bridge-splitting equilibrium constants of the dinuclear, chloride-bridged trans-[PtCl2(cot)]2, 1, in dichloromethane solvent at 298 K with MeOH, MeCN and cot, yielding trans-[PtCl2(cot)(MeOH)], 2, trans-[PtCl2(cot)(MeCN)], 3, an

Background: High-risk alcohol consumption among university students is well documented. Several types of intervention have proved to be effective in reducing alcohol consumption. This study examines the 2-year outcome of 2 different alcohol intervention programs at university halls of residence. Methods: Ninety-eight university halls of residence (with 556 students) were cluster randomized to 2 d

Toll-like receptor 9 (TLR9) induces an inflammatory response by recognition of unmethylated CpG dinucleotides, mainly present in prokaryotic DNA. So far, TLR9-deficient mice have been shown to be more sensitive than wild-type mice to viral, but not to bacterial infections. Here, we show that mice deficient in TLR9 but not in TLR1, TLR2, TLR4 and TLR6 or IL-1R/IL-18R are more susceptible to a respi

OBJECTIVE: To analyse the frequency of autopsy-proven venous thromboembolism within a defined region and evaluate if certain risk groups not earlier recognized could be found. The incidence of objectively diagnosed venous thromboembolism was also calculated. SETTING: The city of Malmo, Sweden, with 230,000 inhabitants. MAIN OUTCOME MEASURE: Analysis of 2,356 autopsies for the year 1987 of deceased

Purpose: The aim of this work is to examine the relationship between aspects of objective and perceived housing and aspects of healthy aging, defined as independence in daily activities and subjective wellbeing. Furthermore, this research examined the comparability of relationships between housing and healthy aging in the five European countries. Design and Methods: Data were drawn from the ENABLE

BACKGROUND Linomide, Figure 1, produces robust and consistent in vivo growth inhibition of prostate cancer models via its anti-angiogenic activity and inhibition of autoimmune encephalomyelitis models of multiple sclerosis (MS). MS clinical trials were discontinued because of unacceptable toxicity, due to dose-dependent induction of proinflammation. METHODS Therefore, linomide analogs were initia

OBJECTIVE: To determine the effects of upright posture compared with supine position on the dominant atrial cycle length (DACL) in patients with chronic atrial fibrillation. DESIGN: The power/frequency spectrum of QRST suppressed lead V1 ECG was studied in 14 patients in the supine position and during the head up tilt table test. The DACL changes were compared with changes in heart rate and blood

Whole cells of alkaliphilic Bacillus pseudofirmus AR-199, induced for beta-galactosidase activity, were used for the synthesis of 1-hexyl-beta-D-galactoside and 1-octyl-beta-D-galactoside, respectively, by transglycosylation reaction between lactose and the corresponding alcohol acceptor. The product yield was strongly influenced by the initial water content in the reaction mixture. Water content

BACKGROUND: The in vitro contracture test (IVCT) is the golden standard to diagnose malignant hyperthermia susceptibility (MHS). A high reproducibility is important for a high validity of a test. METHODS: We have therefore analyzed IVCT in 838 patients, investigated in two laboratories. Each halothane and caffeine test was performed in two muscle strips. The test results were analyzed with respect

Zinc-positive neurons and terminals, known to be associated with the glutamatergic projections in the brain, can be demonstrated by the histochemical Timm method and later modifications thereof. The adult rat neocortex contain a uniform lamination of zinc-positive cells with specific projections to, e.g., the striatum. We have previously reported that fetal neocortical grafts implanted in the adul