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Objective: Hyperostosis-hyperphosphataemia syndrome (HHS) is a rare hereditary disorder characterized by hyperphosphataemia, inappropriately normal or elevated 1,25-dihydroxyvitamin D-3 and localized painful cortical hyperostosis. HHS was shown to be caused by inactivating mutations in GALNT3, encoding UDP-N-acetyl-alpha-D-galactosamine: polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-tran
Seventy-one patients with neuroblastoma (NB) and 25 patients with other neoplastic or nonneoplastic diseases were studied with MIBG scintigraphy. Sensitivity and specificity at diagnosis were 94% and 88%, respectively. Of 52 patients with NB studied during follow-up, 14 had on one or several occasions conflicting results, when the findings at MIBG scintigraphy were compared to standard investigati
In this paper, we demonstrate, for the first time, how an external osmotic gradient can be used to regulate diffusion of solutes across a lipid membrane. We present experimental and theoretical studies of the transport of different solutes across a monoolein membrane in the presence of an external osmotic gradient. The osmotic gradient introduces phase transformations in the membrane, and it cause
Vegetated roofs are becoming a trend in urban design, among others as a tool for city greening, mitigating urban heat island effect, and lowering urban storm runoff. Additionally, pollutant removal within vegetated roofs is often expected; however, it is commonly riot a design feature. This study investigated influence on runoff water quality from two fullscale vegetated roofs (an intensive from J
We introduce a bounding volume hierarchy based on the Slab Cut Ball. This novel type of enclosing shape provides an attractive balance between tightness of fit, cost of overlap testing, and memory requirement. The hierarchy construction algorithm includes a new method for the construction of tight bounding volumes in worst case O(n) time, which means our tree data structure is constructed in O(n l
GABA(B) receptors play an important role in the excitability of neuronal networks and can influence seizure activity. Here we demonstrate for the first time that kindling, an animal model for human temporal lobe epilepsy, leads to both early and delayed changes of GABA(B) receptor immunoreactivity in hippocampal and cortical areas. We propose that the altered GABA(B) receptor levels might be a com
Two formally C-xylosylated analogs to 2-naphthyl beta-D-xylopyranoside, which is known to initiate priming of glucosaminoglycan chains, were synthesized by a position inversion of glucose (i.e., position I becomes position 5). The D-C-xyloside showed priming, while the L-C-xyloside did not initiate priming. (c) 2006 Elsevier Ltd. All rights reserved.
Pure chiral molecules are needed in the pharmaceutical and chemical industry as intermediates for the production of drugs or fine chemicals. Microorganisms represent an attractive alternative to chemical synthesis since they have the potential to generate single stereoisomers in high enantiomeric excess (ee). The baker's yeast Saccharomyces cerevisiae can notably reduce dicarbonyl compounds (in pa
Isothermal (27degreesC) phase behavior of dimyristoyl phosphatidyl choline-cholesterol mixtures at various Osmotic pressures and cholesterol contents was investigated by means of isothermal sorption microcalorimetry and H-2-nuclear magnetic resonance. The calorimetric method allows for simultaneous measurement of the partial molar enthalpy and the chemical potential (the osmotic pressure) of water
According to antibody analysis, approximately two of every three intravenous drug users in Iceland have become infected with hepatitis C virus (HCV). In this study, serum samples from 55 HCV antibody-positive intravenous drug users (39 males and 16 females) were analyzed by polymerase chain reaction, and the viral strains were grouped into genotypes. Only three genotypes--1a, 3a, and 1b--were foun
Objective - To evaluate the role of spirometry and respiratory symptoms in the detection of chronic obstructive pulmonary disease (COPD) in primary health care. Design - A cross-sectional study. Setting - A primary health centre in Landskrona, southern Sweden. Subjects - 164 subjects who in 1992 had answered a postal questionnaire concerning obstructive pulmonary diseases and respiratory symptoms.
Abstract in UndeterminedAn extensive dead-ice area has developed at the stagnant snout of the Holmstrombreen glacier, Svalbard, following its last advance during the Little Ice Age (LIA). The most common landform is ice-cored slopes hosting sediment gravity flows. Dead-ice melting is described and quantified through field studies and analyses of high-resolution, multi-temporal aerial photographs a
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
