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GRACILE syndrome (Fellman syndrome, MIM 603358), an autosomal recessive metabolic disorder of the Finnish disease heritage, has been diagnosed in 25 infants of 18 families. The incidence is at least 1/47,000 in Finland. The main findings are fetal growth retardation, Fanconi type aminoaciduria, cholestasis, iron overload (liver hemosiderosis, hyperferritinemia, hypotransferrinemia, increased trans
A questionnaire complemented with colour photographs was used to obtain information on dietary practices and preferences regarding home-prepared pork chops in a small (n = 151) sample of Swedish consumers. The results from the questionnaire were combined with analytical results from meat of different RN genotypes, and showed that fried chops from a pig that was carrying the RN- allele (high glycog
PURPOSE: The rectoanal inhibitory reflex has been studied using various methods, e. g., anometry and electromyography. The aim of this study was to apply ultrasound for direct visualization of the rectoanal inhibitory reflex. METHOD: The rectoanal inhibitory reflex was induced in ten healthy females (age range, 21 - 55 years) by injection of small amounts of water (7, 12, and 20 ml), into the rect
PURPOSE: To compare the short-term efficacy of the Artelon trapeziometacarpal (TMC) implant with that of total trapeziectomy and abductor pollicis longus (APL) tendon suspension interposition arthroplasty in TMC osteoarthritis. METHODS: A single-center matched cohort study was designed. The Artelon cohort comprised 13 consecutive patients (10 women, 3 men; mean age, 54 years) operated on with Arte
A certified reference material (CRM) for radionuclides in fish sample IAEA-414 (mixed fish from the Irish Sea and North Seas) is described and the results of the certification process are presented. Nine radionuclides (K-40, Cs-137, Th-232, U-234, U-235, U-238, Pu-238, Pu239+240 and Am-241) were certified for this material. Information on massic activities with 95% confidence intervals is given fo
It was recently shown in self-consistent Hartree-Fock calculations that a harmonically trapped dilute gas of fermionic atoms with a repulsive two-body interaction exhibits a pronounced super-shell structure: the shell fillings due to the spherical harmonic trapping potential are modulated by a beat mode. This changes the 'magic numbers' occurring between the beat nodes by half a period. The length
Although quality of life has been in the focus of attention for over a decade there are few studies available investigating, how the old and the oldest old experience their quality of life or what quality of life actually means for them? To illuminate this, eleven in-depth interviews were conducted with six women and five men (80+) living in their home. An interpretative hermeneutic phenomenologic
Huntington's disease (HD) is a hereditary neurodegenerative disorder presenting with chorea, dementia, and extensive striatal neuronal death. The mechanism through which the widely expressed mutant HD gene mediates a slowly progressing striatal neurotoxicity is unknown. Glutamate receptor-mediated excitotoxicity has been hypothesized to contribute to the pathogenesis of HD. Here we show that trans
Matrilin-3 is a recently identified member of the superfamily of proteins containing von Willebrand factor A-like domains and is able to form hetero-oligomers with matrilin-1 (cartilage matrix protein) via a C-terminal coiled-coil domain. Full-length matrilin-3 and a fragment lacking the assembly domain were expressed in 293-EBNA cells, purified, and subjected to biochemical characterization. Reco
Theoretical and experimental results for the 2s(2) S-1(0)-2s2p P-3(1) intercombination line in beryllium-like ions are reviewed and revised, and some new data are presented. The uncertainty in the resulting transition rate is estimated, by using convergence of systematic calculations, accuracy of energy properties and theoretical tests, and is used to evaluate the accuracy of present and other cal
Between 1978 and 2001, 22 patients were diagnosed with occupation-related allergic contact dermatitis from isocyanates and/or polyurethanes in our clinic . 13 had a positive reaction to the isocyanates, of whom 10 also reacted to diaminodiphenylmethane (MDA), which is used in the production or processing of isocyanates and polyurethanes; 9 reacted only to MDA. The object of the present study was t
A model was developed to describe the droplet formation mechanism in membrane emulsification from the point of view of Gibbs free energy with the help of the Surface Evolver, which is an interactive finite element program for the study of interfaces shaped by Surface tension. A program to test the model was written and run which allows the user to track the droplet shape as it grows, to identify t
We present a calculation scheme with significant modifications and improvements for determining the ionization balance and the ion temperature evolution in an electron beam ion trap (EBIT). The scheme is applied to uranium and nitrogen ions using a specific set of EBIT operating parameters. The calculation results are compared to the experimental data. Rates for the individual atomic processes in
Purpose of review Recently, genome-wide genetic screening of common DNA sequence variants has proven a successful approach to identify novel genetic contributors to complex traits. This review summarizes recent genome-wide association studies for lipid phenotypes, and evaluates the next steps needed to obtain a full picture of genotype-phenotype correlation and apply these findings to inform clini
The ecological niches occupied by various species of Helicobacter are not yet known and the full spectrum of diseases associated with Helicobacter infections are not yet defined. Since these fastidious microaerofilic bacteria require special growth conditions new and improved molecular and serologic diagnostic methods have been developed to increase our understanding of their pathogenesis and viru
Mature human neutrophils contain small amounts of interleukin-8 [CXC chemokine ligand 8 (CXCL-8)], which upon proinflammatory activation, increases significantly. It has been suggested that the CXCL-8 content of resting human neutrophils is stored in the secretory vesicles. Here, we have used a fractionation technique, which allows isolation of these vesicles, and we find that CXCL-8 neither coloc
The aim of the work is to elucidate the influence of plasticity behaviour on the residual stress field in a ferritic reactor pressure vessel steel. To this end, we investigate two compressively pre-loaded compact tension (CT) specimens to generate a mechanical residual stress field. One specimen was subsequently pre-cracked by fatigue before both specimens were measured using high-energy synchrotr
