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PURPOSE. To characterize the spectrum of mutations in the OPA1 gene in a large international panel of patients with autosomal dominant optic atrophy (adOA), to improve understanding of the range of functional deficits attributable to sequence variants in this gene, and to assess any genotype-phenotype correlations. METHODS. All 28 coding exons of OPA1, intron-exon splice sites, 273 bp 5' to exon 1

Background & Aims: Human milk is believed to contain biological factors involved in the regulation of newborn growth, including brain development. Recently, it has also been shown to contain the calcium-binding S100B protein, regarded as a neurotrophic factor. The present study investigates the concentrations of this protein in colostrum, human milk at different levels of maturation and in mil

We study oscillator chains of the form phi(k)=omega(k)+K[Gamma(phi(k-1)-phi(k))+Gamma(phi(k+1)-phi(k))], where phi(k)is an element of[0,2pi) is the phase of oscillator k. In the thermodynamic limit where the number of oscillators goes to infinity, for suitable choices of Gamma(x), we prove that there is a critical coupling strength K-c, above which a stable frequency-entrained state exists, but be

The object of this paper is to develop a discussion of territoriality in the built environment as a way of dealing with issues of accessibility and the public nature of urban space. A discussion of territoriality makes it possible to deal with issues of spatial control and access in detail, as well as to maintain some of the complexity in the discussion by refraining from solely analysing these is

To test the hypothesis that GH-induced insulin resistance is mediated by an increase in FFA levels we assessed insulin sensitivity after inhibiting the increase in FFA by a nicotine acid derivative, Acipimox, in nine GH-deficient adults receiving GH replacement therapy. The patients received in a double blind fashion either Acipimox (500 mg) or placebo before a 2-h euglycemic (plasma glucose, 5.5

Unlike the Quebec classification system, which is based primarily on pathoanatomy, a new Swedish classification system is based on the site of functional impairment and disability. A prospective study was performed on 85 patients with whiplash-associated disorders grade II according to the Quebec classification. The patients were examined 3-36 months following trauma. A team of professionals with

AIM: The study aimed to investigate long-term consequences of respiratory syncytial virus (RSV) positive acute lower respiratory tract infection (ALRI) in a low-income country according to severity of the initial infection. DESIGN: The study was a 1:1 matched case-control study of 335 RSV case children and 335 control children. The mean age of RSV ALRI was 0.9 year and at follow-up, 6.8 years. Cas

Popular Abstract in Swedish Denna avhandling fokuserar på två av de många faktorer som är av fundamental betydelse både för människors välfärd och för ett lands utveckling dvs. val av dricksvattenkälla och toalettfacilitet. I avhandlingen analyseras olika aspekter av hushållsefterfrågan på dessa två faktorer med hjälp av data från Filippinerna och Bangladesh. Avhandlingen består av fem kapitel, etThis thesis focuses on different aspects of household demand, and the determinants of demand, for water and sanitation related inputs fundamental to the households' well-being, i.e. drinking water and toilet facilities. The thesis consists of five chapters, one introductory chapter and four self-contained, essentially empirical, studies. In chapter two, Women's Health Choices and the Effects on C

Characterization of soil respiration rates and δ13C values of soil-respired CO2 are often based on measurements at a particular time of day. A study by Gower et al. (2001) in a boreal forest demonstrated diurnal patterns of soil CO2 flux using transparent measurement chambers that included the understory vegetation. It is unclear whether these diurnal patterns were solely the result of photosynthe

The objective of the study was to determine the influence of potato variety, weight and storage time after lifting on the glycaemic index (GI) and resistant starch (RS) content predicted from measurement of the rate and extent of in vitro starch hydrolysis, respectively. The potatoes were either boiled, or boiled and subjected to different heat-cycling conditions selected to promote retrogradation

In this work, compulations of the air/water flow in a distributor were completed with the FLUENT two-phase VOF model and compared to experiments. The parameters of interest concerned the ratio between the deflected mass flow rate of the water phase to the mass flow rate of the water phase at the inlet called the deflection ratio as well as the recreation of the flow pattern of the different two-ph

In accordance with international data, non-Hodgkin's lymphomas (NHL) in the Southern Health Care Region of Sweden were more common in men than in women and there was an inreasing incidence for both genders in the 1980s and 1990s. A study of the years 1983 and 1992, i.e. the beginning and the end of a 10-year period, was carried out. Case records for 94% of all adults diagnosed in 1983 and 1992 (22

The Starlings Sturnus vulgaris breeding in sixteen nest-box groups, three in northern and thirteen in southern Sweden, were monitored in 1988-2003. Date of the first egg was found to correlate with both latitude and elevation when all sites were included (13 degrees of latitude; 5-430 m elevation). Restricting the analysis to only the south Swedish sites (4 degrees of latitude; 5-230 m elevation),

Measurements in a road tunnel in Stockholm, Sweden give the real-world traffic emission factors for a number of gaseous and particle pollutants. These include 49 different polycyclic aromatic hydrocarbons (PAH), CO, NOX, benzene, toluene, xylenes, aldehydes, elements and inorganic/organic carbon contained in particles, the sub-micrometer aerosol number size distribution, PM2.5 and PM10. The exhaus

Transvaginal ultrasound plays a pivotal role in the management of non-pregnant women with abnormal vaginal bleeding. No other imaging technique has a role in the triage of these women. In women with postmenopausal bleeding, ultrasound is used to categorise women as at low or high risk of endometrial cancer, and the result of the ultrasound examination is the basis for further management. In women

Amplification of innate immune responses by endogenous danger-associated molecular patterns (DAMPs) promotes inflammation. The involvement of S100A8 and S100A9, DAMPs belonging to the S100 calgranulin family, in the pathogenesis of cardiovascular disease is attracting an increasing amount of interest. S100A8 and S100A9 (also termed MRP8 and MRP14) preferentially form the S100A8/A9 heterodimer (MRP