Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome (MCLMR) is a rare autosomal dominant disorder with variable expressivity. It is characterized by mild-to-severe microcephaly, often associated with intellectual disability, ocular defects and lymphedema. It can be sporadic or inherited. Eighty-seven patients have been described to carry a mutation in KIF11,

Background: Acetyl Coenzyme A carboxylase beta (ACACB) is the rate-limiting enzyme in fatty acid oxidation, and continuous fatty acid oxidation in Acacb knock-out mice increases insulin sensitivity. Systematic human studies have not been performed to evaluate whether ACACB variants regulate gene expression and insulin sensitivity in skeletal muscle and adipose tissues. We sought to determine wheth

Introduction Ihe association of physical inactivity with mortality, cardiovascular disease and cancer is extensively studied in adults. Clustering of cardiovascular risk factors and objectively measured physical activity in children and youth has not been convincingly established. The sustainability of objectively measured physical activity into adulihood is not satisfactorily studied. Acceleromet

This paper looks into indigenous Aymara notions of ‘the strange’ and ‘the proper’ and examines how such notions are articulated in an indigenous criticism of a persistently colonial modernity. Such criticism is double-edged. On the one hand, it is articulated in a mythological idiom referring to conceptions of profound cosmological import and this paper delves into how such criticism is grounded i

Context. The Gaia-ESO Public Spectroscopic Survey will observe a large sample of clusters and cluster stars, covering a wide age-distance-metallicity-position-density parameter space. Aims. We aim to determine C, N, and O abundances in stars of Galactic open clusters of the Gaia-ESO survey and to compare the observed abundances with those predicted by current stellar and Galactic evolution models.

Experimental models implicate protease activated receptors (PARs) as important sensors of the proteolytic tumor microenvironment during breast cancer development. However, the role of the major PARs, PAR-1 and PAR-2, in human breast tumors remains to be elucidated. Here, we have investigated how PAR-1 and PAR-2 protein expression correlate with established clinicopathological variables and patient

Current trends in industrial automation are the need for customizable production, vertical integration, more advanced sensors and actuators, and shorter time to market. The currently used control systems and languages for control were developed with a more static production in mind. More flexible languages and tools are needed to get a more flexible production. The flexible graphical programming l

Background: Overweight and obesity in younger children could better be brought in focus through a deeper understanding of how Child Health Care nurses (CHC-nurses) perceive their work with the problems of overweight at the CHC Centers. The aim of this study was to elucidate the CHC-nurses conceptions of their preventive work with childhood overweight and obesity in Child Health Care. Method: A qua

Background The metabolic syndrome (MetS) may contribute to the increased cardiovascular risk in systemic lupus erythematosus (SLE). We examined the association between MetS and disease activity, disease phenotype and corticosteroid exposure over time in patients with SLE. Methods Recently diagnosed (< 15 months) patients with SLE from 30 centres across 11 countries were enrolled into the Systemic

Impregnation behaviors of reverse-phase silica materials and C18-silica HPLC columns were studied using di-(2-ethylhexyl)phosphoric acid (HDEHP) as a model extractant. Initially, the adsorption efficiency of the ligand on different types of bulk particles was investigated using various concentration of HDEHP in different composition of methanol/water mixtures based on a batch technique. Subsequent

Objective. Hexaminolevulinate (HAL) is an optical imaging agent used with fluorescence cystoscopy (FC) for the detection of non-muscle-invasive bladder cancer (NMIBC). Guidelines from the European Association of Urology (EAU) and a recent, more detailed European expert consensus statement agree that HAL-FC has a role in improving detection of NMIBC and provide recommendations on situations for its

A determination of the single W spin density matrix (SDM) elements in the reaction e(+)e(-) -> W+W--> l nu q (q) over bar (l=e/mu) is reported at centre-of-mass energies between 189 and 209GeV. The data sample used corresponds to an integrated luminosity of 520pb(-1) taken by DELPHI between 1998 and 2000. The single W SDM elements, rho(W +/-)(tau tau') (tau,tau'=+/- 1 or 0), are determined as a fu

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

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

Soil gas production processes, mainly anaerobic or aerobic soil respiration, drive major gas fluxes across the soil-atmosphere interface. Carbon dioxide (CO2) effluxes, an efflux which in most ecosystems is a result of both autotrophic and heterotrophic respiration, in particular have received international attention. The importance of both CO2 and methane (CH4) fluxes are emphasised in the Arctic

Snow cover plays a major role in the climate, hydrological and ecological systems of the Arctic and other regions through its influence on the surface energy balance (e.g. reflectivity), water balance (e.g. water storage and release), thermal regimes (e.g. insulation), vegetation and trace gas fluxes. Feedbacks to the climate system have global consequences. The livelihoods and well-being of Arcti