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MSH2 rearrangements are involved in approximately 10% of hereditary non,polyposis colorectal cancer (HNPCC) families, and in most of the rearrangements, exon I is deleted. We scanned by quantitative multiplex polymerase chain reaction (PCR) of short fluorescent fragments (QMPSF) 200 kb of genomic sequences upstream of the MSH2 transcription initiation site in 21 HNPCC families with exon I deletion
Between 1992 and 2004, 1,140 children (1 to < 15 years) were diagnosed with B-cell precursor acute lymphoblastic leukemia (ALL) in the Nordic countries. Of these, 288 (25%) were positive for t(12; 21)(p 13;q22) [ETV6/RUNXI]. G-banding analyses were successful in 245 (85%); 43 (15%) were karyotypic failures. The modal chromosome numbers, incidence, types, and numbers of additional abnormalities, ge
Diamond-Blackfan anemia (DBA) typically presents with red blood cell aplasia that usually manifests in the first year of life. The only gene currently known to be mutated in DBA encodes ribosomal protein S19 (RPS19). Previous studies have shown that the yeast RPS19 protein is required for a specific step in the maturation of 40S ribosomal subunits. Our objective here was to determine whether the h
It is commonly observed that the rate of enzymatic hydrolysis of solid cellulose substrates declines markedly with time. In this work the mechanism behind the rate reduction was investigated using two dominant cellulases of Trichoderma reesei: exoglucanase Cel7A (formerly known as CBHI) and endoglucanase Cel7B (formerly EGI). Hydrolysis of steam-pretreated spruce (SPS) was performed with Cel7A and
An interference quenching of the nu"=1 vibrational line in the resonant Auger decay of N 1s-->pi(*) core-excited N-2 is observed and analyzed. The intensity ratio between the nu"=1 and nu"=0 vibrational levels of the X(2)Sigma(g)(+) final state shows a surprising nonmonotonous variation as a function of frequency detuning, going through a minimum with a complete suppression of nu"=1. We have devel
Smoking is the main risk factor for COPD (chronic obstructive pulmonary disease) but genetic factors are of importance, since only a subset of smokers develops the disease. Sex differences have been suggested both in disease prevalence and response to environmental exposures. Furthermore, it has been shown that acquisition of 'addiction' to smoking is partly genetically mediated. Disease cases and
Lake and peat corings on three Azores islands in the central North Atlantic, resulted in the discovery of a 6000 year long lacustrine sequence in a small crater lake, Lake Caveiro, on the island of Pico. This island is dominated by Pico mountain (2351 m), Portugal's highest mountain, and the lake site is situated at 903 in asl. Two sediment profiles, one central and one littoral, were sampled. Due
The inlet geometry of the combustion chamber of a Helmholtz type pulse combustor was changed by altering the position of a stagnation plate, or flame holder, near the inlet. Three different flame fielder positions were studied. The operating characteristics in terms of time resolved pressure and heat release, time averaged tail pipe temperature and concentrations of O2 and NOx in the outlet decoup
Two native grasses, Festuca ovina of dry and Agrostis stolonifera mainly of moist habitats of calcareous grasslands, were studied in an experiment with the objective of elucidating the effect of soil moisture level on soil solution chemistry, biomass production and shoot mineral nutrients. Eight levels of moisture, corresponding to 30-100% of the water-holding capacity (WHC) of the soil, were test
Objective: (1) To evaluate constraint-induced movement therapy for chronic stroke patients modified into group practice to limit the demand on therapist resources. (2) To explore whether extended mitt use alone may enhance outcome. Design: A combined case-control and randomized controlled study with pre- and post-treatment measures by blinded observers. Setting: A university hospital rehabilitatio
For local administration of drugs or enzyme inhibitors in the human gut, a small-bore, smooth tube was introduced through the nose, retrieved from the pharynx, equipped with a firm radio-opaque capsule, and swallowed. Peristalsis moves the capsule to the desired location in the gut where it is anchored before administration via the tube. Drug uptake is followed by plasma sampling. One capsule typ
Dampness in buildings has been linked to adverse health effects, but the specific causative agents are unknown. Mycotoxins are secondary metabolites produced by molds and toxic to higher vertebrates. In this study, mass spectrometry was used to demonstrate the presence of mycotoxins predominantly produced by Aspergillus spp. and Stachybotrys spp. in buildings with either ongoing dampness or a hist
DNA microarray technology has been a valuable tool to provide a global view of the changes in gene expression that characterize different types of B cell lymphomas, both in relation to clinical parameters but also in comparison with the non-malignant counterparts. The number of transcripts that can be analyzed on an array has dramatically increased, and now most commercially available arrays cover
Hematopoietic cells have secretory lysosomes that degranulate at the inflammatory site upon stimulation. We asked whether one could target exogenous proteins with a therapeutic potential to secretory lysosomes in hematopoietic cells. For this purpose, we expressed a soluble tumor necrosis factor (TNF) receptor form (sTNFR1) in hematopoietic cell lines. In order to accomplish targeting to secretory
The determination of drug-protein binding and free drug concentration in plasma applying the equilibrium sampling through membrane (ESTM) technique has been studied using supported liquid membrane extraction in a single hollow fibre without any membrane carrier. In the extraction setup, the donor phase (plasma or buffer) was placed in the vial, into which was immersed the hollow fibre with the acc
