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Disease gene identification is still a challenge despite modern high-throughput methods. Many diseases are very rare or lethal and thus cannot be investigated with traditional methods. Several in silico methods have been developed but they have some limitations. We introduce a new method that combines information about protein-interaction network properties and Gene Ontology terms. Genes with high
The aim of this study was to determine the risk and burden of vertebral fractures judged as those coming to clinical attention and as morphometric fractures. Incidence and utility loss were computed from data from Malmo, Sweden. Clinical fractures accounted for 23% of all vertebral deformities in women and for 42% in men. The average 10-year fracture probability for morphometric fractures increase
The enzyme beta-galactosidase was purified from a cold-adapted organism isolated from Antarctica. The organism was identified as a psychrotrophic Pseudoalteromonas sp. The enzyme was purified with high yields by a rapid purification scheme involving extraction in an aqueous two-phase system followed by hydrophobic interaction chromatography and ultrafiltration. The beta-galactosidase was optimally
Different studies on the stability of high density lipoprotein cholesterol (HDL) in frozen serum or plasma have yielded conflicting results, namely increase, decrease, or no change at all during prolonged storage under freezing conditions. As part of a major trial on lipid-lowering strategies we statistically demonstrated a time-related decrease in HDL cholesterol during storage up to 46 months at
Intensive surveys of staging and wintering diving ducks in the Öresund area,southern Sweden, were undertaken during the winters 1995/96, 1996/97 and1997/98 as a part of the Environmental Impact Assessment (EIA) related to theestablishment of a Fixed Link (bridge–tunnel–artificial island) between Swedenand Denmark. Monitoring of the benthic fauna made it possible to compare thecalculated food requi
Cytogenetic studies over the past few decades have revealed clonal chromosomal aberrations in almost 27,000 human neoplasms. Many of these neoplasia-associated chromosomal abnormalities have been characterised at the molecular level, revealing previously unknown genes that are closely associated with the tumorigenic process. Information on chromosome changes in neoplasia is growing rapidly, making
We have performed near-field x-ray imaging with simultaneous object and probe reconstruction. By an advanced ptychographic algorithm based on longitudinal and lateral translations, full-field images of nanoscale objects are reconstructed with quantitative contrast values, along with the extended wavefronts used to illuminate the objects. The imaging scheme makes idealizing assumptions on the probe
The PREDICTS project—Projecting Responses of Ecological Diversity In Changing Terrestrial Systems (www.predicts.org.uk)—has collated from published studies a large, reasonably representative database of comparable samples of biodiversity from multiple sites that differ in the nature or intensity of human impacts relating to land use. We have used this evidence base to develop global and regional s
Genomic DNA from each of four Acl individuals (genotypes AO1, AO1var, AO2) and one AclB individual was used as a template for amplifying exons 6 and 7 of the ABO genes, which were subsequently sequenced. In all the Ael alleles a single nucleotide insertion, compared to the A consensus sequence, was observed that would alter the amino acid sequence of the glycosyltransferase immediately after its p
OBJECTIVE—To study the progression of retinopathy 3 years after initiation of insulin therapy. RESEARCH DESIGN AND METHODS—In a prospective, observational case-control study, 42 type 2 diabetic patients were examined at baseline and 1, 3, 6, 12, 24, and 36 months after change to insulin therapy. Retinopathy was graded based on fundus photographs using the Wisconsin scale; HbA1c and IGF-1 were mea
Histological slides from the lungs of 89 dead asbestos cement workers have been examined with respect to ferruginous bodies and fibrosis. The results have been compared with individually matched controls with no known exposure to asbestos, and related to asbestos exposure, expressed as duration of exposure and cumulative asbestos dose, and smoking habits. The asbestos cement workers studied had be
An increasing incidence of testicular cancer has been reported from several western countries during the last decades. According to current hypothesis testicular cancer is initiated during the foetal period and exposure to endocrine disruptors such as some persistent organic pollutants has been of concern. We have previously reported the results for concentrations of polychlorinated biphenyls (PCB
Background: Ramsay Hunt syndrome (progressive myoclonus ataxia) is a descriptive diagnosis characterized by myoclonus, ataxia, and infrequent seizures. Often the etiology cannot be determined. Recently, a mutation in the GOSR2 gene (c.430G>T, p.Gly144Trp) was reported in 6 patients with childhood-onset progressive ataxia and myoclonus. Methods: We evaluated 5 patients with cortical myoclonus, atax
Hydropower is a renewable energy that expected to be affected by persistent climate change in Mozambique. Variability of climate e.g. temperature and precipitation will contributors to future shortage of energy from renewable energy production especially for hydropower and biomass. This research reviews the impacts of climate change on the productions of hydropower in Mozambique. Furthermore, a st
