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The Sanfilippo syndrome type B is a lysosomal storage disorder caused by deficiency of alpha-N-acetylglucosaminidase; it is characterized by profound mental deterioration in childhood and death in the second decade. For understanding the molecular genetics of the disease and for future development of DNA-based therapy, we have cloned the cDNA and gene encoding alpha-N-acetylglucosaminidase. Clonin
Background: There is controversy regarding the influence of ketamine and its enantiomers on cerebral haemodynamics at increased intracranial pressure (ICP). This study was designed to compare cerebrovascular responses, with particular respect to ICP, to bolus injections of racemic, S(+)- and R(-)-ketamine in an experimental model of intracranial hypertension. Methods: Nine pigs were anaesthetised
BACKGROUND: The Collaborative Group on Hormonal Factors in Breast Cancer has brought together the worldwide epidemiological evidence on the possible relation between breast cancer and previous spontaneous and induced abortions. METHODS: Data on individual women from 53 studies undertaken in 16 countries with liberal abortion laws were checked and analysed centrally. Relative risks of breast cancer
Exclusive data from an intensity interferometry experiment are presented, where, for the first time, the technique of two-nucleon correlation functions is applied to isotopically selected data, with the aim to study the isospin dependence of the nuclear equation of state (EOS). The different correlation function strength, observed for two isotopically separated systems, E/A = 61 MeV Ar-36 + Sn-112
Ferrochelatase (EC 4.99.1.1) catalyzes the last reaction in the heme biosynthetic pathway. The enzyme was studied in the bacterium Bacillus subtilis, for which the ferrochelatase three-dimensional structure is known. Two conserved amino acid residues, S54 and Q63, were changed to alanine by site-directed mutagenesis in order to detect any function they might have. The effects of these changes were
Background. Today, most children born preterm survive without major impairments. But high frequencies of cognitive and behavioural difficulties arise. Studies on dental behavioural management problems (DBMP) in these children are lacking. In addition, studies on caries prevalence are few and inconclusive. Aim. This study aims to compare the frequency of behavioural problems and poor compliance wit
While Huntington's disease (HD) is a condition that primarily involves the basal ganglia, there is evidence to suggest that the hypothalamus is also affected. Because the osmoreceptors regulating thirst are situated in the circumventricular region of the hypothalamus, we were interested in whether altered thirst is a part of the HD phenotype. We used the LABORAS behavioural monitoring system and w
Laplace operators on metric graphs are considered. It is proven that for compact graphs the spectrum of the Laplace operator determines the total length, the number of connected components, and the Euler characteristic. For a class of non-compact graphs the same characteristics are determined by the scattering data consisting of the scattering matrix and the discrete eigenvalues.
A systematic study was conducted over six years (1994-1999) on a shallow ice covered lake in the Russian Republic of Karelia with the aim of developing better understanding of some physical processes occurring in shallow ice-covered lakes. The average ice-covered period was 182 days while the longest ice-covered period was 193 days. The average lake water temperature at ice formation was 0.5-10deg
This paper decomposes the popular risk measure Value-at-Risk (VaR) into one jump- and one continuous component. The continuous component corresponds to general market risk and the jump component is proportional to the event risk as defined in the Basel II accord. We find that event risk, which is currently not incorporated into most banks’ VaR models, comprises a substantial part of total VaR. It
Background: Early detection of prostate cancer (PCa) centers on measurements of prostate-specific antigen (PSA), but current testing practices suffer from lack of specificity and generate many unnecessary prostate biopsies. Soluble urokinase plasminogen activator receptor (uPAR) is present in blood in both intact and cleaved forms. Increased uPAR in blood is correlated with poor prognosis in vario
The role of spontaneous and induced abortion on breast cancer risk is examined among 267,361 women recruited into the European Prospective Investigation into Cancer and nutrition between 1992 and 2000. The data were collected from 20 centers, across 9 countries, and included information on a total of 4,805 women with breast cancer, of whom 1,657 reported having ever had any type of abortion. Overa
Introduction Alveolar dead space reflects phenomena that render arterial partial pressure of carbon dioxide higher than that of mixed alveolar gas, disturbing carbon dioxide exchange. Right-to-left shunt fraction (Qs/Qt) leads to an alveolar dead space fraction (VdA(S)/VtA; where VtA is alveolar tidal volume). In acute respiratory distress syndrome, ancillary physiological disturbances may include
The glutathione S-transferase P1 genotype (GSTP1) is involved in the inactivation of cigarette smoke carcinogens, and sequence variation in the gene may alter bladder cancer susceptibility. To examine the association between GSTP1lle 105Val and bladder cancer, the authors undertook a meta- and pooled analysis. Summary crude and adjusted odds ratios and corresponding 95% confidence intervals were p
Wheat proteins, soluble in diluted acid (glutenins), have been fractionated by counter-current distribution (CCD) using an aqueous two-phase system. The phase system is based on poly(ethylene glycol) and dextran but contains also 1% propionic acid and 6 mM magnesium sulfate. Approximately half of the bulk proteins partitioned to the upper phase while starch and other particles were recovered only
Student nurses' experience of preceptorship was the focus of this second part of a phenomenological study. The aim was to illuminate student nurses' lived experience of the preceptor-preceptee relationship on hospital wards. A phenomenological-hermeneutic analysis was made of tape-recorded interviews with seventeen student nurses. The interpretation process culminated in four themes, namely: (a) c
B lymphocyte development is a complex biological process critically dependent on the transcription factor early B cell factor (EBF). To deepen understanding of the roles for EBF in this process, we have used Pearson correlation analysis to evaluate microarray data from a set of mouse B lymphoid cell lines representing different stages of development. Comparing the expression pattern of EBF to that
The aim of this work was to evaluate the measurement properties and hierarchical item structure of the Epworth Sleepiness Scale (ESS) in patients with Parkinson's disease (PD). Data were taken from a cross-sectional study regarding fatigue and sleep-related aspects of PD. One hundred and eighteen consecutive patients with neurologist-diagnosed PD without significant co-morbidities (54% men; mean a
