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CHARGE syndrome is a disorder characterized by Coloboma, Heart defect, Atresia choanae, Retarded growth and/or development, Genital hypoplasia and Ear anomalies. Heterozygous mutations in the chromodomain helicase DNA-binding protein 7 (CHD7) gene have been identified in about 60% of individuals diagnosed with CHARGE syndrome. We performed a CHD7 mutation screening by direct exon sequencing in 28
The in vitro effects of angiotensin II (Ang II) in human vessels are not well studied. The development of specific Ang II-receptor antagonists has made it possible to delineate more carefully the receptor mechanisms involved. The objective of this study was twofold: to investigate the effect of Ang II on human coronary arteries and to study the effects of angiotensin II type 1 receptor blockade wi
In ultrarelativistic heavy-ion collisions, the event-by-event variation of the elliptic flow v2 reflects fluctuations in the shape of the initial state of the system. This allows to select events with the same centrality but different initial geometry. This selection technique, Event Shape Engineering, has been used in the analysis of charge-dependent two- and three-particle correlations in Pb–Pb
Understanding the relationships between snow and vegetation is important for interpretation of the responses of alpine ecosystems to climate changes. The Qinghai-Tibetan Plateau is regarded as an ideal area due to its undisturbed features with low population and relatively high snow cover. We used 500 m Moderate Resolution Imaging Spectroradiometer (MODIS) datasets during 2001–2010 to examine the
Objective. To investigate the relationship between migration status and sedentary leisure-time physical activity status in the city of Malmö, Sweden. Methods. The public health survey in 1994 is a cross-sectional study. A total of 5600 individuals aged 20-80 completed a postal questionnaire. The response rate was 71%. The population was categorized according to country of birth. Multivariate analy
We recently reported that differential gene expression and DNA methylation profiles in blood leukocytes of apparently healthy smokers predicts with remarkable efficiency diseases and conditions known to be causally associated with smoking, suggesting that blood-based omic profiling of human populations may be useful for linking environmental exposures to potential health effects. Here we report on
Scope: Lingonberries have been shown to reduce the detrimental effects of high-fat diet (HFD) on weight gain, plasma glucose, and inflammation. However, the extent of effects was recently shown to vary between different batches of berries. Here, we examine the metabolic response to two independent batches of lingonberries. Methods and results: Alterations in the phenotype and circulating metabolom
It has been hypothesized that low frequency (1-5% minor allele frequency (MAF)) and rare (<1% MAF) variants with large effect sizes may contribute to the missing heritability in complex traits. Here, we report an association analysis of lipid traits (total cholesterol, LDL-cholesterol, HDL-cholesterol triglycerides) in up to 27 312 individuals with a comprehensive set of low frequency coding varia
This study explored the ability of blind and sighted listeners to detect reflections, "echoes", of burst trains or continuous noise. Echo detection was compared by presenting 5 ms bursts, rates from 1 to 64 bursts, with a continuous white noise, all during 500 ms. Sounds were recorded in an ordinary room through an artificial binaural head, the loudspeaker 1 m behind it. The reflecting object was
Purpose - The purpose of this paper is to carry out a numerical investigation to study forced convection for a tube with fins on the inner and outer surfaces with water as the base fluid and adding particles of CuO to have a nanofluid. Design/methodology/approach - Three geometries are designed by using Solid Works and the number of inside fins is 20 with height 6 mm and thickness 1mm. The number
The aim of the European project MASTER (MAnaging Speeds of Traffic on European Roads) is to produce information that can be cited in the preparation of national and EU decisions concerning speed management and standards for speed control equipment. For this purpose, the project seeks answers to three key questions:1) What are acceptable ranges of speeds?2) What are the key factors influencing dri
Background: There is an ongoing discussion on whether routinely patch testing with p-phenylenediamine (PPD) 1.0% pet. is safe, owing to the risk of patch test sensitization. Late-appearing patch test reactions may reflect patch test sensitization, but may also be attributable to a low degree of pre-existing sensitization. Objectives: To follow the positive patch test reactions to PPD and its salt
The aim is to investigate associations between sexual orientation and experience of suicide thoughts and suicide attempts. The 2012 public health survey in Scania, southern Sweden, is a cross-sectional population-based study including 28,029 participants aged 18–80 with 51.7% participation. The associations between sexual orientation and experience of suicide thoughts and attempts were investigate
Influences on stratospheric aerosol during the first four months following the eruption of Kasatochi volcano (Alaska) were studied using observations at 10700 +/- 600 m altitude from the CARIBIC platform. Collected aerosol samples were analyzed for elemental constituents. Particle number concentrations were recorded in three size intervals together with ozone mixing ratios and slant column densiti
Using a recently introduced multiplex polymerase chain reaction and restriction fragment length polymorphism ABO genotype screening method we have found an anomalous ABO genotype (A2O1variant) not correlating with the serological phenotype (blood group O). The blood group was confirmed by absorption/elution and detection of blood group substances in saliva. Sequencing of exons 6 and 7 in the ABO g
