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Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study

Background The leucine-rich repeat kinase 2 gene (LRRK2) harbours highly penetrant mutations that are linked to familial parkinsonism. However, the extent of its polymorphic variability in relation to risk of Parkinson's disease (PD) has not been assessed systematically. We therefore assessed the frequency of LRRK2 exonic variants in individuals with and without PD, to investigate the role of the

The probability of patients being admitted from the emergency department is negatively correlated to in-hospital bed occupancy - a registry study.

The association between emergency department (ED) overcrowding and poor patient outcomes is well described, with recent work suggesting that the phenomenon causes delays in time-sensitive interventions, such as resuscitation. Even though most researchers agree on the fact that admitted patients boarding in the ED is a major contributing factor to ED overcrowding, little work explicitly addresses w

The European treatment of severe atopic eczema in children taskforce (TREAT) survey

BackgroundThere is a paucity of evidence for the use of systemic agents in children with atopic eczema refractory to conventional therapy, resulting in considerable variation in patient management. ObjectivesThe European TREatment of severe Atopic eczema in children Taskforce (TREAT) survey was established to collect data on current prescribing practice, to identify factors influencing the use of

Involvement of Matrix Metalloproteinase-9 in Amyloid-β 1-42-Induced Shedding of the Pericyte Proteoglycan NG2.

Deposition of amyloid-β (Aβ) 1-42, the major component of senile plaques characteristic of Alzheimer disease, affects brain microvascular integrity and causes blood-brain barrier dysfunction, increased angiogenesis, and pericyte degeneration. To understand the cellular events underlying Aβ1-42 effects on microvascular alterations, we investigated whether different aggregation forms of Aβ1-42 affec

Translational approach for gene therapy in epilepsy: Model system and unilateral overexpression of neuropeptide Y and Y2 receptors.

Although novel treatment strategies based on the gene therapy approach for epilepsy has been encouraging, there is still a gap in demonstrating a proof-of-concept in a clinically relevant animal model and study design. In the present study, a conceptually novel framework reflecting a plausible clinical trial for gene therapy of temporal lobe epilepsy was explored: We investigated (i) whether the p

The genetic structure of Borrelia afzelii varies with geographic but not ecological sampling scale.

The genetic structure of a pathogen is an important determinant of its potential rate of adaptation and can thereby influence the dynamics of host-parasite interactions. We investigated how the genetic structure of Borrelia afzelii varies with geographic and ecological sampling scale. Genetic structure was measured as the degree of linkage disequilibrium (LD) across three loci. To test for the eff

Complement Gene Single Nucleotide Polymorphisms and Biomarker Endophenotypes of Alzheimer's Disease

The complement system has been implicated in both physiological synapse elimination and Alzheimer's disease (AD). Here, we investigated associations between four single nucleotide polymorphisms (SNPs) in complement genes and cerebrospinal fluid (CSF) biomarkers for AD in 452 neurochemically or neuropathologically verified AD cases and 678 cognitively normal controls. None of the SNPs were associat

Combined anaerobic-ozonation process for treatment of textile wastewater: Removal of acute toxicity and mutagenicity.

A novel set up composed of an anaerobic biofilm reactor followed by ozonation was used for treatment of artificial and real textile effluents containing azo dyes. The biological treatment efficiently removed chemical oxygen demand and color. Ozonation further reduced the organic content of the effluents and was very important for the degradation of aromatic compounds, as shown by the reduction of

Association between occupation and knee and hip replacement due to osteoarthritis: a case-control study

Introduction: The objective of this study was to examine the association between occupation and osteoarthritis (OA) leading to total knee (TKR) or hip (THR) joint replacement. Methods: The following is the case-control study design. All patients still living in Iceland who had had a TKR or THR due to OA as of the end of 2002 were invited to participate. First degree relatives of participating pati

The Fc gamma receptor IIa R131H polymorphism is associated with inhibitor development in severe hemophilia A

Background: The development of factor (F) VIII neutralizing alloantibodies (inhibitors) is a major complication of treatment with FVIII concentrates in hemophilia A and the etiology is still poorly understood. The low-affinity Fc gamma receptors (Fc gamma R), which are expressed on immune cells, provide an important link between cellular and humoral immunity by interacting with IgG subtypes. Genet

Frequent somatic transfer of mitochondrial DNA into the nuclear genome of human cancer cells.

Mitochondrial genomes are separated from the nuclear genome for most of the cell cycle by the nuclear double membrane, intervening cytoplasm, and the mitochondrial double membrane. Despite these physical barriers, we show that somatically acquired mitochondrial-nuclear genome fusion sequences are present in cancer cells. Most occur in conjunction with intranuclear genomic rearrangements, and the f

A combined approach to microstructure mapping of an Al-Li AA2199 friction stir weld

A wide range of complementary techniques are used to build up a detailed picture of the microstructural zones found in friction stir welds (FSW) in an advanced AA2199 Al-Li alloy. Neutron and synchrotron X-ray diffraction, transmission electron microscopy, differential scanning calorimetry, small angle X-ray scattering, scanning electron microscopy, electron backscatter diffraction (EBSD) and hard

Persistent organic pollutants and male reproductive health

Environmental contaminants such as persistent organic pollutants (POPs) are man-made bioaccumulative compounds with long half-lives that are found throughout the world as a result of heavy use in a variety of consumer products during the twentieth century. Wildlife and animal studies have long suggested adverse effects of exposure to these compounds on human reproductive health, which, according t

Tumor Targeting Using Affibody Molecules: Interplay of Affinity, Target Expression Level, and Binding Site Composition.

Radionuclide imaging of cancer-associated molecular alterations may contribute to patient stratification for targeting therapy. Scaffold high-affinity proteins, such as Affibody molecules, are a new, promising class of probes for in vivo imaging. Methods. The effects of human epidermal growth factor receptor 2 (HER2) affinity and binding site composition of HER2-binding Affibody molecules, and of

Does biological quality matter? Direct and reflected appraisal of biodiversity in temperate deciduous broad-leaf forest.

Using a multilevel approach, this study investigates direct (perceptual, emotional, and physiological responses [qEEG]) and reflected (preference, attitude, and intention to accept conservation measures) appraisal of different levels of biodiversity in temperate deciduous broad-leaf forest biotopes. Thirty-five participants viewed three series of zoomed pictures from biotopes assessed according to

Ordovician stratigraphy of the Stumsnas 1 drill core from the southern part of the Siljan Ring, central Sweden

The Stumsnas 1 core, drilled in 2011 in the southern part of the Siljan Ring, provides new insights into the stratigraphy of the Ordovician succession in central Sweden. The core section shows evidence of the structural complications caused by the late Devonian meteorite impact in the area. In the core, about 90m of Tremadocian to Darriwilian strata are sandwiched between Proterozoic igneous basem

High-order harmonic generation using a high-repetition-rate turnkey laser.

We generate high-order harmonics at high pulse repetition rates using a turnkey laser. High-order harmonics at 400 kHz are observed when argon is used as target gas. In neon, we achieve generation of photons with energies exceeding 90 eV (∼13 nm) at 20 kHz. We measure a photon flux of up to 4.4 × 10(10) photons per second per harmonic in argon at 100 kHz. Many experiments employing high-order harm

Detection of C2H2 and HCl using mid-infrared degenerate four-wave mixing with stable beam alignment: towards practical in situ sensing of trace molecular species

A stable and convenient optical system to realize the forward phase-matching geometry for degenerate four-wave mixing (DFWM) is demonstrated in the mid-infrared spectral region by measuring DFWM signals generated in acetylene (C2H2) and hydrogen chloride (HCl) molecules by probing the fundamental ro-vibrational transitions. IR laser pulses tunable from 2900 cm(-1) to 3350 cm(-1) with a 0.025 cm(-1