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PURPOSE. The purpose of this study was to clinically characterize patients with CNGA3-linked achromatopsia (CNGA3-ACHM) in preparation of a gene therapy trial. METHODS. Thirty-six patients (age 7-56 years) with complete (cACHM) or incomplete (iACHM) CNGA3-ACHM were examined, including detailed psychophysical tests, extended electrophysiology, and assessment of morphology by fundus autofluorescence

Purpose: To investigate the cerebrospinal fluid (CSF) proteome of patients with preeclampsia (PE) and normotensive pregnant women, in order to provide a better understanding of brain involvement in PE. Experimental design: Ninety-eight CSF samples (43 women with PE and 55 normotensive controls) were analyzed by LC–MS/MS proteome profiling. CSF was obtained during the spinal puncture before caesare

The relative environmental impact from the building construction phase is increasing compared to the operation phase for new buildings. Therefore, it is important to consider the complete environmental life cycle of energy improvement measures. Many advanced optimization methods have been developed in recent years to assess building life cycle impact. However, these previous studies have not fully

A hallmark of disease is that most pathogens are able to infect more than one host species. However, for most pathogens, we still have a limited understanding of how this affects epidemiology, persistence and virulence of infections—including several zoonotic pathogens that reside in wild animal reservoirs and spillover into humans. In this chapter, we review the current knowledge of mallard (Anas

The atmospheric organic aerosol is a tremendously complex system in terms of chemical content. Models generally treat the mixtures as ideal, something which has been questioned owing to model-measurement discrepancies. We used an oxidation flow reactor to produce secondary organic aerosol (SOA) mixtures containing oxidation products of biogenic (α-pinene, myrcene and isoprene) and anthropogenic (m

This article analyses new waves of cultural production in the late Soviet and post-Soviet period. It focuses on contemporary artists’ self-perception and self-positioning in the new realities of the postsocialist cultural realm and national awakening discourses. Independent contemporary artists of the post-Soviet period form new artistic movements, such as Punk Shamanism in Kazakhstan, to produce

Methanol as an alternative fuel in internal combustion engines has an advantage in decreasing emissions of greenhouse gases and soot. Hence, developing of a high performance internal combustion engine operating with methanol has attracted the attention in industry and academic research community. This paper presents a numerical study of methanol combustion at different start-of-injection (SOI) in

We examined the relationship between pulmonary density, measured with computerized tomography, and pulmonary mechanics (static pulmonary volume; pulmonary resistance) in 39 normal subjects (20 nonsmokers and 19 smokers). Pulmonary density decreased with increasing static elastic recoil pressure, and smokers consistently showed higher pulmonary density than nonsmokers. Pulmonary density, measured a

In Swedish, tones on word stems function as predictive cues to upcoming grammatical suffixes. Invalid matching of these linguistic tonal cues to suffixes affects native speakers of Swedish in their linguistic processing (Roll et al., 2010). Planum Temporale (PT) has previously been found to be involved in processing Thai (Xu et al., 2006) and Swedish tones (Roll et al., 2015), and in phonological

Brood size in the Great Tit (Parus major) was manipulated (increased, decreased, or unchanged) when nestlings were 5 days old. Both the frequency of second clutches and the interbrood interval were affected. The number of nestlings and hatching date, but not nestling and female mass, differed between first broods followed and not followed by second clutches. Hatching date and the number of nestlin

Idiopathic Parkinson’s disease (PD) is a complex disease caused by multiple, mainly unknown, genetic and environmental factors. The Ventral root avulsion 1 (Vra1) locus on rat chromosome 8 includes the Glutathione S-transferase alpha 4 (Gsta4) gene and has been identified in crosses between Dark Agouti (DA) and Piebald Virol Glaxo (PVG) rat strains as being associated to neurodegeneration after ne

Drop fragmentation in high intensity turbulent emulsification processing equipment-such as rotor-stator mixers (RSMs)-has traditionally been described in terms of a stress balance; between the stabilizing stress of the drop and the time-averaged turbulent stress at the most intense position of the flow. As shown in part 1 of this series, this approach is often a fruitful first approximation. Howev

The pocket cavity is generated at the transition part between the low pressure turbine (LPT) and outlet guide vane (OGV) in a gas turbine engine. Because the important connection with OGV, the heat transfer and fluid flow need to be investigated and analyzed. In the present work, a simplified triangular pocket cavity is built and heat transfer and fluid flow are investigated experimentally and num

Introduction: Central venous access devices facilitate home treatment in boys with haemophilia. These are usually fully implanted lines, referred to as ports. Caregivers are taught to manage the port using sterile techniques and maintaining patency by flushing with saline or heparin solution. National and international guidelines for the home care of ports are lacking. Aim: To evaluate if infectio

OBJECTIVES: Outcome assessment in large-vessel vasculitis (LVV) remains challenging and this impairs patient management and the conduct of clinical studies. Previous proposals for outcome tools have not included imaging. This study aimed to develop an imaging score to quantify damage in LVV and to assess the difference between Takayasu (TAK) and giant cell arteritis (GCA).METHODS: Ninety-six patie

Aims: The atherogenicity of chylomicron remnants has been discussed. We examined whether serum apoB48 level is associated with the presence of carotid plaque in type 2 diabetic patients. Method: Forty type 2 diabetic patients (21 males and 19 females, 52.8 ± 11.8 years old; mean ± S.D.) were divided into two groups by the presence or absence of carotid plaque. The diurnal change of serum apoB48 le

Introduction This study follows cadmium and lead concentrations in blood in the adult population in northern Sweden over 24 years. Material and methods Concentrations of lead and cadmium were measured in single whole blood samples (B-Pb and B-Cd) from 619 men and 926 women participating in the Northern Sweden WHO MONICA Study on one occasion 1990–2014. Associations with smoking and dietary factors