Genetic mapping of a major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q

The epilepsies are a group of disorders characterised by recurrent seizures caused by episodes of abnormal neuronal hyperexcitability involving the brain. Up to 60 million people are affected worldwide and genetic factors may contribute to the aetiology in up to 40% of patients. The most common human genetic epilepsies display a complex pattern of inheritance. These are categorised as idiopathic in the absence of detectable structural or metabolic abnormalities. Juvenile myoclonic epilepsy (JME) is a distinctive and common variety of familial idiopathic generalised epilepsy (IGE) with a prevalence of 0.5-1.0 per 1000 and a ratio of sibling risk to population prevalence (lambda(s)) of 42. The molecular genetic basis of these familial idiopathic epilepsies is entirely unknown, but a mutation in the gene CHRNA4, encoding the alpha4 subunit of the neuronal nicotinic acetylcholine receptor (nAChR), was recently identified in a rare Mendelian variety of idiopathic epilepsy. Chromosomal regions harbouring genes for nAChR subunits were therefore tested for linkage to the JME trait in 34 pedigrees. Significant evidence for linkage with heterogeneity was found to polymorphic loci encompassing the region in which the gene encoding the alpha7 subunit of nAChR (CHRNA7) maps on chromosome 15q14 (HLOD = 4.4 at alpha = 0.65; Z(all) = 2.94, P = 0.0005). This major locus contributes to genetic susceptibility to JME in a majority of the families studied.     

The cGMP modulator, LY83583 alters oxygen metabolites differently in cultured endothelial cells and isolated neutrophilic granulocytes

The purpose of this study is to evaluate the effect of one abrasive cleaner, one non-abrasive cleaner and one non-abrasive alcohol-based cleaner on the lens parameter stability of the NOVALENS. Twenty-four lenses, all NOVALENS material of identical design, were cleaned 100 times each. Eight lenses were cleaned with MiraFlow (CIBA Vision), eight lenses with Optic-Free Daily Cleaner and eight lenses with the Gas Permeable Daily Cleaner (PBH). The base curve radius, center thickness and power were verified immediately before, immediately after and (per manufacturer's recommendation) 4 hours after cleaning at baseline, 25, 50, 75 and 100 cleanings. Lens toricity of approximately 0.50D was found with all three cleaners after 100 cleanings. No change in lens power or center thickness was found. It was concluded that extreme care must be taken in handling the NOVALENS due to the potential of induced warpage.     

Eight-year exploration of shrinkage in high-performance concrete

In this paper, an experimental and analytical exploration on the effect of water-binder ratio (w/b), silica fume and age on autogenous, carbonation, drying and total shrinkage of high-performance concrete (HPC) is outlined. Eight types of HPC were studied. Carbonation, internal relative humidity (RH) and strength were studied on specimens from the same batch of HPC that was used in the studies of shrinkage. The results indicate fairly good correlation between carbonation, shrinkage, w/b and RH. The type and amount of silica fume affected shrinkage.     

Relationship between the attenuation of downwelling irradiance at 490 nm with the attenuation of PAR (400 nm-700 nm) in the Baltic Sea

The vertical attenuation coefficient of diffuse downwelling irradiance at 490 nm (K_d 490) is a parameter that we routinely derive from SeaWiFS images of the Baltic Sea. Here, through model simulations, we examine the relationship between K_d(490), and the vertical attenuation coefficient of PAR (K_d PAR), as this later coefficient determines the light available for aquatic photosynthesis. A simple semi-analytical model is used to predict K_d(490) and K_d(PAR), as a function of the concentrations of chlorophyll, colored dissolved organic material (CDOM), suspended inorganic, and suspended organic particulate material. A series of model simulations based on variations in these optically significant constituents over a range realistic for the Baltic Sea, are used to define the relationship between the two attenuation coefficients.

Kd(PAR)=0.6677Kd^0.6763(490).     

On the internal frost resistance of self-compacting concrete, with and without polypropylene fibres

In this article experimental and numerical studies of internal frost resistance of self-compacting and normal concrete, with and without fibres, are outlined. For this purpose self-compacting concrete with low water-cement ratio was studied, with varying amounts of filler, crystalline or sedimentary, different pouring pressures and different mixing procedure with two ages at the start of testing. The concrete was frozen twice a day at ±20^∘C all around the specimen up to 300 cycles. Measurement of length, weight and internal fundamental frequency were performed at the start of testing, at 100 cycles and at 300 frost cycles. Tests were also carried out on submerged cast self-compacting concrete and on self-compacting concrete with fibres. In reference tests normal concrete was studied in parallel. In general self-compacting concrete behaved well or better than normal concrete to internal frost except for the submerged cast concrete, where large segregation occurred and low internal frost resistance followed. The main reasons for low internal frost resistance in submerged applications were probably differences in water-cement ratio in the casting due to cement, water or/and aggregate segregation. Polypropylene fibres in concrete seemed to prohibit the movement of water in the air void system so that a sudden internal collapse occurred before 300 frost cycles.     

Species identification by genotyping and determination of antibiotic resistance in Campylobacter jejuni and Campylobacter coli from humans and chickens in Sweden

Campylobacter is today the most common cause of human bacterial enteritis in Sweden, as well as in most other industrialized countries. Common sources of infection are undercooked chicken meat, unpasteurized milk and contaminated drinking water. One aim with our present study was to identify the species Campylobacter jejuni and Campylobacter coli strains from humans and chickens using a polymerase chain reaction/restriction enzyme analysis (PCR/REA) method, as well as traditional hippurate hydrolysis test. Another aim was to investigate the antibiotic resistance pattern of the human domestic C. jejuni/C. coli isolates from infected patients and isolates from healthy Swedish chicken, as well as isolates from humans infected abroad. If discrimination between C. jejuni and C. coli was based on testing for hippurate hydrolysis, 95% of the human domestic strains and 88% of the chicken strains were identified as C. jejuni. Based on genotyping by PCR/REA, 100% of the human domestic strains and 98% of the chicken strains were attributed to C. jejuni. The E-test and disc diffusion methods were used for phenotypic antibiotic resistance studies. The two methods gave similar results. Most Swedish C. jejuni/C. coli isolates both from humans and chickens were sensitive to doxycycline and erythromycin, which are antibiotics used to treat human infection. Only 7% of the human domestic strains and 2% of the chicken strains were resistant to the quinolones tested. As a comparison, more than 94% of strains isolated from travelers to Asia and southern Europe showed antibiotic resistance to one or more drugs.