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To assess the role of CHCHD2 variants in patients with Parkinson disease (PD) and Lewy body disease (LBD) in Caucasian populations.

Popular Abstract in Swedish Tillväxtfaktorer påverkar signaler mellan celler i hjärnan Människors hjärnor innehåller flera miljarder hjärnceller, vilka är förutsättningen för vårt beteende, våra känslor och våra tankar. Hjärncellerna bildar kontakter, synapser, med varandra. Genom dessa överförs signaler från en cell till en annan. Varje cell kontaktar en mängd andra celler, både sådana med liknanThe neurotrophins, notably brain-derived neurotrophic factor (BDNF) and neurotrophin 3 (NT3), modulate synaptic transmission and synaptic plasticity in the adult mammalian brain. Recent data suggest that neurotrophins might be mediators of activity-dependent synaptic plasticity. Such plasticity is believed to be a cellular correlate for important processes like learning, but also for diseases, for

BACKGROUND: Maternally derived duplications of the 15q11-q13 region are the most frequently reported chromosomal aberrations in autism spectrum disorders (ASD).Prader-Willi and Angelman syndromes, caused by 15q11-q13 deletions or abnormal methylation of imprinted genes, are also associated with ASD. However, the prevalence of these disorders in ASD is unknown. The aim of this study was to assess t

In some patients, graft-induced dyskinesia develops following intrastriatal transplantation of embryonic neural tissue for the treatment of Parkinson's disease. The mechanisms underlying these involuntary movements need to be clarified before this approach to clinical cell therapy can be developed further. We previously found that rats with 6-OHDA lesions, primed with L-DOPA treatment and that hav

Despite the spatially homogenous summer temperaturepattern in Fennoscandia, there are large spreadsamong the many existing reconstructions, resulting in anuncertainty in the timing and amplitude of past changes.Also, there has been a general bias towards northernmostFennoscandia. In an attempt to provide a more spatiallycoherent view of summer (June–August, JJA) temperaturevariability within the l

The c-KIT receptor tyrosine kinase mediates the cellular response to stem cell factor (SCF). Whereas c-KIT activity is important for the proliferation of hematopoietic cells, melanocytes and germ cells, uncontrolled c-KIT activity contributes to the growth of diverse human tumors. Suppressor of cytokine signaling 6 (SOCS6) is a member of the SOCS family of E3 ubiquitin ligases that can interact wi

A time-dependent mathematical model for the heat transfer in laser-induced hyperthermia has been developed. The model calculates the temperature distribution in surface-irradiated tissues. Good agreement was found between the predictions of the model and in vitro experimental results obtained for bovine liver irradiated with an expanded beam from a Nd:YAG laser. Surface evaporation of water was in

Following the implementation of advanced treatment procedures in radiotherapy, there is a need for dynamic dose verification in 3D. Gel dosimetry could potentially be used for such measurements. However, recently published data show that certain types of gels have a dose rate and fractionation dependence. The aim of this study was to investigate the feasibility of using a polymer gel dosimeter for

Between 1999 and 2005, 10 264 patients who had undergone total hip replacement (THR) for subcapital fracture of the hip were compared with 76 520 in whom THR had been performed for other reasons. All the cases were identified through the Swedish Hip Arthroplasty Register. The THRs performed as primary treatment for fracture were also compared with those done after failure of internal fixation. Aft

Proteome analysis involves many steps that generate large quantities of data in different formats. This creates a need for automatic data merging and extraction of important features from data. Furthermore, metadata need to be collected and reported to enable critical evaluation of results. Many data analysis tools are developed locally in research laboratories and are nontrivial to adapt for othe

BACKGROUND: Several surveys show that patients with chronic heart failure (CHF) are sub-optimally managed and treatment guidelines are not implemented in clinical practice. AIMS: To investigate awareness and perceptions of the 2005 European Society of Cardiology (ESC) guidelines for CHF. METHODS: 467 cardiologists from seven European countries completed an on-line interview using a validated, semi

Previous studies have reported the functional characterization of nine out of eleven genes found in the gene cluster responsible for biosynthesis of the polyketide pigment aurofusarin in Fusarium graminearum. Here we reanalyse the function of a putative aurofusarin pump (AurT) and the two remaining orphan genes, aurZ and aurS. Targeted gene replacement of aurZ resulted in the discovery that the co

A method is described for identifying simultaneous signals from different transmit antennas in multiantenna sounders. Multiple-orthogonal signals are produced from one pseudonoise code by using it to modulate RF carriers at precalculated offset frequencies. Although their frequency spectra are interleaved and they occupy the same band, the spectral lines from different transmitters are separable a

Dermatan sulfate is a highly sulfated polysaccharide and has a variety of biological functions in development and disease. Iduronic acid domains in dermatan sulfate, which are formed by the action of two DS-epimerases, have a key role in mediating these functions. We have identified the catalytic site and three putative catalytic residues in DS-epimerase 1, His205, Tyr261 and His450, by tertiary s

Intestinal-derived chemokines have a central role in orchestrating immune cell influx into the normal and inflamed intestine. Here, we identify the chemokine CCL6 as one of the most abundant chemokines constitutively expressed by both murine small intestinal and colonic epithelial cells. CCL6 protein localized to crypt epithelial cells, was detected in the gut lumen and reached high concentrations