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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: Human stem cells are viewed as a possible source of neurons for a cell-based therapy of neurodegenerative disorders, such as Parkinson's disease. Several protocols that generate different types of neurons from human stem cells (hSCs) have been developed. Nevertheless, the cellular mechanisms that underlie the development of neurons in vitro as they are subjected to the specific differe
In previous studies a high frequency of elevated plasma tHcy concentrations has been observed in psychogeriatric patients (40-50%), but the main cause of these increased concentrations could not be established with certainty. Impaired renal function could partly contribute to elevated plasma tHcy concentrations in psychogeriatric patients. Therefore, in the present study, cystatin C was used as a
An aqueous two-phase system based on the two polymers poly(ethylene glycol) and dextran has been used for the fractionation of cellulase enzymes present in culture liquid obtained by fermentation with Trichoderma reesei. The activities of beta-glucosidase and glucanases were separated to high degree by using the two-phase systems for a counter-current distribution process in nine transfer steps. W
With the human genome in a first sequence draft and several other genomes being finished this year, the existing information gap between genomics and proteomics is becoming increasingly evident. The analysis of the proteome is, however, much more complicated because the synthesis and structural requirements of functional proteins are different from the easily handled oligonucleotides for which a f
Ozonization reaction of ethene in neat film at 77 K was performed. Separation of ethene secondary ozonide from the other products of the reaction was performed by continuous pumping of the reactor. Only the products, which evaporated from the walls of the reactor at 185 K, were transferred to the gas cell. The high-resolution infrared absorption spectrum of gaseous ethene secondary ozonide (C2H4O3
Theoretical results are presented on the absorption and fluorescence of indole in aqueous solution as well as at the air/water surface. We use a combined quantum chemical statistical mechanical model with explicit solvent. An approximate ab initio complete active space self-consistent field description of the indole molecule is used, coupled to a discrete polarizable water medium. From the bulk si
The hydration (or solvation) of the lithium, sodium, fluoride, and chloride ions are investigated using a combined quantum chemical statistical mechanical model. Radial distribution functions and the distribution of coordination numbers are reported and compared with other recent studies. An algorithm to investigate the geometry of the first solvation shell is proposed and applied to the four hydr
Results on diffractive photoproduction of psi(2S) mesons are presented using data collected between 1996 and 2000 with the H1 detector at the HERA ep collider. The data correspond to an integrated luminosity of 77 pb(-1). The energy dependence of the diffractive psi(2S) cross section is found to be similar to or possibly somewhat steeper than that for J/psi mesons. The dependences of the elastic a
An amino-terminal region of a, chain of type IV collagen noncollagenous domain [alpha(3)(IV)NC1] that induces experimental autoimmune glomerulortephritis (EAG) in rats has been identified. Only recombinant antigens that contain a nine-amino acid (AA) span of alpha(3)(IV)NC1, consistent with a T cell epitope, could induce EAG. It was hypothesized that synthetic peptides of this region should induce
The ability of a nematode-trapping fungus to establish in field soil is an important characteristic when considering its use as a biological control agent. The outgrowth of the nematode-trapping fungus Arthrobotrys superba from wood was recorded by labelling the fungus with [14C]3-O-methylglucose and [32P]orthophosphoric acid and by using the soil sprinkling method. The fungus reached a distance o
Popular Abstract in Swedish Det övergripande syftet med föreliggande studie är att utveckla en bättre förståelse om vad det innebär att vara montessorilärare. Utgångspunkten är lärarnas egna liv- och verksamhetsberättelser. Insamling av data har skett genom loggböcker, intervjuer, skriftliga reflektioner och diskussioner. Analys av lärarnas livsberättelser i samband med övriga data har granskats fThe overall aim of this study has been to come to a better understanding of what it means to be a Montessori teacher, by getting a group of Montessori teachers to reflect on their lives and work. Data exploration has comprised journals, interviews, written reflections and collaborative contextual analysis. Analysis of the teachers' occupational life histories and the findings as a whole have been
A new type of amperometric biosensor based on immobilised acetylcholine esterase was designed and constructed. The enzyme was immobilised on a flow-through working electrode, which was prepared from reticulated vitreous carbon (RVC) or from a composite material consisting of RVC and superporous agarose. The sensor was operated in FIA mode using acetylthiocholine as a substrate. The sensor responde
System verification and validation are important activitiesin the software development process aiming at testing thesoftware system in various quality aspects.The purpose of this study is to investigate theimportant characteristics of the verification andvalidation activities in the software development processin an organization. A qualitative research method isemployed in order to facilitate the
Current neuroimaging and neurophysiologic techniques have substantially increased our possibilities to study processes related to various language functions in the intact human brain. Learning to read and write influences the functional organization of the brain. What is universal and what is specific in the languages of the world are important issues. Most studies on healthy bilinguals indicate t
This study presents a predicted five-year reference interval for the outcome following repair of the median or ulnar nerve in adults. Forty-four patients were examined with the use of a recently introduced model instrument for documentation after nerve repair that includes "sensory", "motor", and "pain/discomfort" outcomes which together constitute a summarized "total score". Analysis of the "tota
Previously [The abstract has been shortened somewhat, and the headings removed, in order to conform to journal style], we have observed vestibular asymmetry in about one-third of healthy senior citizens and in about two-thirds of subjects with previous hip fractures and no other significant ailments. Wrist fractures are considered a harbinger of hip fractures. If vestibular asymmetry is correlated
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
