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Mutations in the low-density lipoprotein receptor gene in Swedish familial hypercholesterolaemia patients: clinical expression and treatment response

BACKGROUND: Familial hypercholesterolaemia, an autosomal co-dominant disorder caused by defects in the low-density lipoprotein receptor gene, is strongly associated with premature development of cardiovascular disease. METHODS: In this study, we have applied a gene screening method in a population of familial hypercholesterolaemia patients in order to describe the genetic background of the disease

Interplay between single-particle and collective effects in the odd-A Cu isotopes beyond N=40

Collective properties of the low-lying levels in the odd-A Cu67-73 were investigated by Coulomb excitation with radioactive beams. The beams were produced at ISOLDE and postaccelerated by REX-ISOLDE up to 2.99 MeV/u. In Cu-67,Cu-69, low-lying 1/2(-), 5/2(-), and 7/2(-) states were populated. In Cu-71,Cu-73, besides the known transitions deexciting the single-particle-like 5/2(-) and core-coupled 7

Nitrogen translocation between Alnus glutinosa (L.) Gaertn. seedlings inoculated with Frankia sp and Pinus contorta Doug ex Loud seedlings connected by a common ectomycorrhizal mycelium

Uptake and translocation of nitrogen was studied in laboratory microcosms consisting of Alnus glutinosa (L.) Gaertn., Frankia sp., Paxillus involutus (Fr.) Fr. and Pinus contorta Dougl. ex Loud. P. involutus was shown to form a fully functional ectomycorrhizal association with alder as well as pine, and the seedlings thus became interconnected by a common mycelium. When microcosms were exposed to

Cleavage of fibromodulin in cartilage explants involves removal of the N-terminal tyrosine sulphate rich region by proteolysis at a site that is sensitive to MMP-13.

Integrity of cartilage fails in joint disease. The current work aimed to identify candidate active proteinases in joint diseases using an in vitro model for cartilage degradation induced by interleukin-1. A critical event in the process of cartilage destruction in joint disease is the failure of the collagen fiber network to maintain integrity. Proteins binding to the surface of the fibers are lik

A filtered flame approach for simulation of unsteady laminar premixed flames

The simulation of laminar flames consists of capturing the evolution of a very large number of species that may react within a broad range of time scales. It results in a highly non-linear stiff numerical problem that requires large computational resources. In the present paper, an alternative approach for the simulation of unsteady premixed flames is proposed. The approach focuses on describing t

Molecular engineering of fluorescent penicillins for molecularly imprinted polymer assays

The interaction of seven novel fluorescent labeled beta-lactams with a library of six polymer materials molecularly imprinted (MI) with penicillin G (PenG) has been evaluated using both radioactive and fluorescence competitive assays. The highly fluorescent competitors (emission quantum yields of 0.4-0.95) have been molecularly engineered to contain pyrene or dansyl labels while keeping intact the

Analysis of ethylenethiourea as a biomarker in human urine using liquid chromatography/triple quadrupole mass spectrometry.

Ethylenebisdithiocarbamates (EBDCs) are widely used fungicides. Ethylenethiourea (ETU), the main metabolite and also a contaminant in the commercially available products, is of major toxicological concern. In this study, a method using liquid chromatography/triple quadrupole mass spectrometry (LC/MS/MS) is described for the analysis of ETU in human urine after a single-step extractive derivatizati

Tumor karyotype predicts clinical outcome in colorectal cancer patients

Purpose To investigate the prognostic value of the overall karyotypic features and specific chromosome aberrations in colorectal cancer (CRC). Patients and Methods Cytogenetic features of 150 primary CRCs investigated at the time of surgery were correlated with patient survival by univariate and multivariate analyses, using classical clinicopathologic parameters as covariates. Results In univariat

Development of screening guidelines and clinical criteria for predementia Alzheimer's disease

Background: There is an urgent need to identify subjects with Alzheimer's disease (AD) in the predementia phase, but validated diagnostic approaches are currently lacking. In this paper, we present the background, design and methods of a study, which aims to develop clinical criteria for predementia AD. We also present baseline characteristics of the subjects included. The study was part of the mu

Horismenus species (Hymenoptera : Eulophidae) in a bruchid beetle parasitoid guild, including the description of a new species

Four species of Horismenus (Hymenoptera: Eulophidae) associated with Acanthoscelides spp. (Coleoptera: Bruchidae), three of which are also associated with Phaseolus spp., are treated. One of the species, H. butcheri, is described as new and the remaining three species are redescribed. All four species are diagnosed in a key. A lectotype is designated for Holcopelte productus Ashmead.

Reproducibility of Doppler measurements of blood flow velocity in the uterine and ovarian arteries in premenopausal women

Intra- and interobserver reproducibility of Doppler measurements of the pulsatility index (PI) and time-averaged maximum velocity (TAMXV) in the uterine and ovarian arteries were evaluated in examinations of healthy premenopausal women. Each woman underwent reproducibility measurements once in the late follicular phase and once in the midluteal phase. Intraobserver repeatability was assessed in ex

Nutritional Supplementation Decreases Hip Fracture-related Complications.

Protein energy malnutrition is an important determinant of clinical outcome in older patients after hip fracture, but the effectiveness of nutritional support programs in routine clinical practice is controversial. We performed a prospective, randomized, controlled clinical trial to determine if nutritional supplementation decreased fracture-related complications in a selection of otherwise health

Cost effectiveness of haemophilia treatment: a cross-national assessment.

The aim of this study was to assess the incremental cost effectiveness of on-demand versus prophylactic haemophilia therapy in Germany, Sweden, the United Kingdom and The Netherlands from the third-party payers' perspective. Using a decision tree model, the cost effectiveness of on-demand versus prophylactic therapy was analysed by extrapolating data from the European Haemophilia Economic Study to

Time scales of water dynamics at biological interfaces: peptides, proteins and cells

Water 2H and 17O spin relaxation is used to study water dynamics in the hydration layers of two small peptides, two globular proteins and in living cells of two microorganisms. The dynamical heterogeneity of hydration water is characterized by performing relaxation measurements over a wide temperature range, extending deeply into the supercooled regime, or by covering a wide frequency range. Prote