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Novel PRRT2 mutation in an African-American family with paroxysmal kinesigenic dyskinesia

Background: Recently, heterozygous mutations in PRRT2 (Chr 16p11.2) have been identified in Han Chinese, Japanese and Caucasians with paroxysmal kinesigenic dyskinesia. In previous work, a paroxysmal kinesigenic dyskinesia locus was mapped to Chr 16p11.2 - q11.2 in a multiplex African-American family. Methods: Sanger sequencing was used to analyze all four PRRT2 exons for sequence variants in 13 p

Reproductive and Hormonal Factors, and Ovarian Cancer Risk for BRCA1 and BRCA2 Mutation Carriers: Results from the International BRCA1/2 Carrier Cohort Study

Background: Several reproductive and hormonal factors are known to be associated with ovarian cancer risk in the general population, including parity and oral contraceptive (00 use. However, their effect on ovarian cancer risk for BRCA1 and BRCA2 mutation carriers has only been investigated in a small number of studies. Methods: We used data on 2,281. BRCA1. carriers and 1,038 BRCA2 carriers from

Statin use and risk of depression: a Swedish national cohort study

Background: Statin medications, used to prevent heart disease by reducing cholesterol, also reduce inflammation and protect against oxidative damage. As inflammation and oxidative stress occur in depression, there is interest in their potential to reduce depression risk. We investigated whether use of statin medications was associated with a change in the risk of developing depression in a very la

Neutron guide-split: A high performance guide bundle concept for elliptical guides

We present a new guide-split concept for transporting cold and thermal neutrons to multiple instruments from a single beam port at a neutron facility without compromising the useful neutron brilliance notably for any of the instruments. Elliptical guides are capable of transporting an almost completely filled phase space within a large divergence (+/- 2 degrees for cold neutrons). It is therefore

The Columnar Lined Esophagus: aspects on the assessment of dysplasia and on the relationship with the esophageal submucosal glands

Columnar metaplasia, where columnar epithelium replaces the normal squamous epithelium in esophagus, is considered to be a precancerous condition in which the development of adenocarcinoma can be followed through various grades of dysplasia. The interpretation of these histological changes is subjective and suffers from considerable inter-observer variation among pathologists. In study I, we devis

Changes in self and object representations following psychotherapy measured by a theory-free, computational, semantic space method

We propose a theory-neutral, computational and data-driven method for assessing changes in semantic content of object representations following long-term psychodynamic psychotherapy. Young adults in psychotherapy are compared with an age-matched, non- clinical sample at three time points. Verbatim transcripts of descriptions of the self and parents were quantified in a semantic space constructed b

Resource allocation and disturbance rejection in web servers using SLAs and virtualized servers

Abstract—Resource management in IT–enterprises gain more and more attention due to high operation costs. For instance, web sites are subject to very changing traffic–loads over the year, over the day, or even over the minute. Online adaption to the changing environment is one way to reduce losses in the operation. Control systems based on feedback provide methods for such adaption, but is in natur

Responses to Tumour initiating factors and Regulation of Normal and Malignant Haematopoiesis

The haematopoietic stem cell (HSC) resides within a specific environment enabling it to retain its self-renewal capacity or quiescent state. It is proposed that the HSC niche is hypoxic, a milieu within which the HSC is protected from intrinsic and extrinsic stimuli. We have investigated the haematopoietic phenotype of an HSC in a mouse model where hypoxia-regulated Vegfa expression is abrogated.

Patterns of Post-Glacial Genetic Differentiation in Marginal Populations of a Marine Microalga

This study investigates the genetic structure of an eukaryotic microorganism, the toxic dinoflagellate Alexandrium ostenfeldii, from the Baltic Sea, a geologically young and ecologically marginal brackish water estuary which is predicted to support evolution of distinct, genetically impoverished lineages of marine macroorganisms. Analyses of the internal transcribed spacer (ITS) sequences and Ampl

Physiological state of female and light intensity affect the host-plant selection of carrot psyllid, Trioza apicalis (Hemiptera : Triozidae)

We have studied the effect of different light gradient regimes on host-plant selection of the carrot psyllid, Trioza apicalis Forster. In both a strong and a weak light gradient, carrot psyllids preferred a carrot leaf placed in higher light intensity. When the choice was between the host (carrot Daucus carota L.) and a non-host (barley Hordeum vulgare L.) virgin adults settled significantly more

Who decides the position for birth? A follow-up study of a randomised controlled trial

Background: Physical benefits are suggested for women and their babies when women adopt an upright position of their choice at birth. Available care options during labour influence women's impressions of what intrapartum care is. This indicates that choice of birth positions may be determined more by midwives than by women's preferences. Question: The aims of this study were to investigate factors

Changes in Membrane Phospholipids as a Mechanistic Explanation for Decreased Freeze Tolerance in Earthworms Exposed to Sublethal Copper Concentrations

At low temperature, cell membrane functionality depends on adjustments of membrane phospholipid fatty acid (PLFA) composition. We here test the hypothesis that previous exposure to copper (Cu) may deteriorate tolerance to freezing temperatures because of Cu-induced changes of PLFA composition of cell membranes in the freeze-tolerant earthworm Dendrobaena octaedra. Cu levels and freezing temperatur

Influence of glutathione-related genes on symptoms and immunologic markers among vulcanization workers in the southern Sweden rubber industries.

OBJECTIVE: The aim was to elucidate the role of genetic variants on symptoms of the eyes and airways, headache and nausea, as well as on immunologic markers, among vulcanization workers in the contemporary Swedish rubber industry. Polymorphisms in genes, which are involved in the defense against reactive oxygen species and metabolism of toxic substances present in the vulcanization fumes, were ana

Turning waste into value: using human urine to enrich soils for sustainable food production in Uganda

This article builds on an action research process involving Ugandan smallholder farmers in collaborative experimentation on the use of human urine as a crop fertilizer. The aim is to explore farmers' perceptions and evaluation of the practice as a potential and partial solution to soil productivity problems. Findings show that urine fertilization is valued as a low-cost and low-risk practice contr