The present series comprises all families (n = 77) with haemophilia B in Sweden and may be considered to be representative for the purposes of a population-based study of mutational heterogeneity. The 77 families (38 severe, 10 moderate, 29 mild) had 51 different mutations in total. Thirteen families had total, partial or small deletions, two had mutations in the promoter, eight families had splic

Sixty high-risk breast and/or ovarian cancer families from North-Eastern Poland were screened for germline mutations in BRCA1 (MIM# 113705) and BRCA2 (MIM# 600185), using a combination of protein truncation test, denaturing high-performance liquid chromatography and direct sequencing. Sixteen (27%) of the families were found to carry nine different BRCA mutations, including 14 families with BRCA1

Before the rise of professional ethnography, untrained methods to investigate ‘other’ cultures prevailed among various Westerns actors: travelers, missionaries, colonial administrators, and traders. This article analyzes how such informal ethnography is still treated as an epistemic guide in a post-colonial and transnational business world. A particular case is examined: Swedish and Swedish-Polish

Chromatin immunoprecipitation (ChIP) is a powerful assay used to probe DNA-protein interactions. Traditional methods of implementing this assay are lengthy, Cumbersome and require a large number of cells, making it difficult to study rare cell types Such its certain cancer and stem cells. We have designed a microfluidic device to perform sensitive ChIP analysis on low cell numbers in a rapid, auto

Integrins are ubiquitous transmembrane receptors that play crucial roles in cell-cell and cell-matrix interactions. In this study, we have determined the effects of the loss of beta1 integrins in keratinocytes in vitro and during cutaneous wound repair. Flow cytometry of cultured beta1-deficient keratinocytes confirmed the absence of beta1 integrins and showed downregulation of alpha6beta4 but not

Lower urinary tract (LUT) smooth muscle can be relaxed by drugs that increase intracellular concentrations of cyclic adenosine monophosphate (cAMP) and cyclic guanosine monophosphate (cGMP). Both of these substances are degraded by phosphodiesterases (PDEs), which play a central role in the regulation of smooth muscle tone. The distribution and functional significance of PDE enzymes vary in differ

This study aimed at describing environmental barriers in housing and functional limitations among older community-living people in Sweden, to provide knowledge of housing accessibility problems from a longitudinal perspective, and to shed some light on older people's subjective reflections on housing. Along with a study-specific questionnaire on subjective reflections on housing, the Housing Enabl

In order to determine the mode of beat-to-beat decay of contractility from very high levels, we studied the beat-by-beat decay of cardiac contractility following potentiation. Such decay curves are normally analysed using a mono-exponential decay function, which assumes that a fixed fraction of activator calcium ions is recirculated from one beat to the next. We postulated that there might be devi

The relationship between glomerular and tubular dysfunction and metabolic control in type 1 diabetes was studied. To that end the urinary excretion rates of albumin and Tamm-Horsfall protein as well as HbA1c levels were measured in 58 patients with different degrees of diabetic nephropathy and in 76 apparently healthy subjects matched for sex and age. The urinary Tamm-Horsfall protein levels were

The kinetics of kraft lignin (KL) aggregation at alkaline conditions was studied by quasi-elastic light scattering (QELS) and turbidity measurements. Stability ratios (W) for HL were obtained at 70 degreesC and various concentrations of sodium chloride. By analyzing the early-time evolution data of aggregate growth obtained from QELS, fractal dimensions of flocs formed in both reaction-limited clu

Bacterial vaginosis is a change in flora, the cause of which is still unknown in the vast majority of instances. Bacterial vaginosis has generally been used to represent any change in vaginal flora resulting in an assumed loss of lactobacilli. However, whether such a flora represents the genetically normal state of some women is poorly defined. The present 'crude' diagnosis of bacterial vaginosis

BACKGROUND: From the viewpoint of the clinical neuropsychologist, it is not evident if the detection of solvent induced toxic encephalopathy (TE) could be optimized by a modification of the traditional test batteries, adding tests covering new dimensions or monitoring further functional domains. METHODS: To clarify this issue, TE patients were re-examined with (a) the tests traditionally used in s

Osmoderma eremita is a threatened scarab beetle living in the hollows of old deciduous trees and is regarded as an umbrella species of the beetle fauna associated with this habitat. Several methods like pitfall trapping and wood mould sampling have been used to monitor the occurrence of O. eremita, but these methods cannot be applied for trees with certain characteristics. Recently, (R)-(+)--decal

The hypothalamus is the main appetite-regulating center in the brain receiving peripheral signals regarding the metabolic status of the body. Pancreatic procolipase has recently been identified in rat hypothalamus. Procolipase is known mainly for its actions in the intestine where it is cleaved to colipase, an enzyme required for the maintenance of pancreatic lipase activity, and enterostatin, a p

Human gliomas express TGF-beta but, so far the expression of downstream mediators has been investigated in only a few cell lines. We have examined tissue specimens of 23 gliomas: 3 astrocytomas grade II (AST), 8 anaplastic astrocytomas grade III (AAST), and 12 glioblastoma multiforme grade IV (GBM). We analyzed the mRNA expression of TGF-beta1, TGF-beta2, TGF-beta3, the TGF-beta receptors type I (

På socionomutbildningarna i Norden skall studenterna både praktiskt och teoretiskt lära sig socialt arbete. I artikeln redovisas resultat från en undersökning av vilket teoretiskt innehåll socionomutbildningarna lägger i ämnet, hur det integreras i utbildningen och vem som undervisar i ämnet.

A testicular form of hormone-sensitive lipase (HSLtes), a triacylglycerol lipase, and cholesterol esterase, is expressed in male germ cells. Northern blot analysis showed HSLtes mRNA expression in early spermatids. Immunolocalization of the protein in human and rodent seminiferous tubules indicated that the highest level of expression occurred in elongated spermatids. We have previously shown that