39 research outputs found
On the kinematics of the neutron star low mass X-ray binary Cen X-4
We present the first determination of the proper motion of the neutron star
low mass X-ray binary {Cen X-4} measured from relative astrometry of the
secondary star using optical images at different epochs. We determine the
Galactic space velocity components of the system and find them to be
significantly different from the mean values that characterize the kinematics
of stars belonging to the halo, and the thin and the thick disc of the Galaxy.
The high metallicity of the secondary star of the system rules out a halo
origin and indicates that the system probably originated in the Galactic disc.
A statistical analysis of the galactocentric motion revealed that this binary
moves in a highly eccentric () orbit with an inclination of
to the Galactic plane. The large Galactic space velocity
components strongly support that a high natal kick as a result of a supernova
explosion could have propelled the system into such an orbit from a birth place
in the Galactic disc. The high Li abundance in the secondary, comparable to
that of stars in star forming regions and young stellar clusters like the
Pleiades, may suggest a relatively recent formation of the system. Following
the orbit backwards in time, we found that the system could have been in the
inner regions of the Galactic disc 100--200 Myr ago. The neutron star
might have formed at that moment. However, we cannot rule out the possibility
that the system formed at a much earlier time if a Li production mechanism
exists in this LMXB.Comment: 6 pages, 4 figures, accepted for publication in A&
O-GlcNAc transferase invokes nucleotide sugar pyrophosphate participation in catalysis
Protein O-GlcNAcylation is an essential post-translational modification on hundreds of intracellular proteins in metazoa, catalyzed by O-linked β-N-acetylglucosamine (O-GlcNAc) transferase (OGT) using unknown mechanisms of transfer and substrate recognition. Through crystallographic snapshots and mechanism-inspired chemical probes, we define how human OGT recognizes the sugar donor and acceptor peptide and uses a new catalytic mechanism of glycosyl transfer, involving the sugar donor α-phosphate as the catalytic base as well as an essential lysine. This mechanism seems to be a unique evolutionary solution to the spatial constraints imposed by a bulky protein acceptor substrate and explains the unexpected specificity of a recently reported metabolic OGT inhibitor. © 2012 Nature America, Inc. All rights reserved
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NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum
Background: The nucleotide binding protein-like (NUBPL) gene was first reported as a cause of mitochondrial complex I deficiency (MIM 613621, 618242) in 2010. To date, only eight patients have been reported with this mitochondrial disorder. Five other patients were recently reported to have NUBPL disease but their clinical picture was different from the first eight patients. Here, we report clinical and genetic findings in five additional patients (four families). Methods: Whole exome sequencing was used to identify patients with compound heterozygous NUBPL variants. Functional studies included RNA-Seq transcript analyses, missense variant biochemical analyses in a yeast model (Yarrowia lipolytica) and mitochondrial respiration experiments on patient fibroblasts. Results: The previously reported c.815-27T>C branch-site mutation was found in all four families. In prior patients, c.166G>A [p.G56R] was always found in cis with c.815-27T>C, but only two of four families had both variants. The second variant found in trans with c.815-27T>C in each family was: C.311T>C [p.L104P] in three patients, c.693+1G>A in one patient and c.545T>C [p.V182A] in one patient. Complex I function in the yeast model was impacted by p.L104P but not p.V182A. Clinical features include onset of neurological symptoms at 3-18 months, global developmental delay, cerebellar dysfunction (including ataxia, dysarthria, nystagmus and tremor) and spasticity. Brain MRI showed cerebellar atrophy. Mitochondrial function studies on patient fibroblasts showed significantly reduced spare respiratory capacity. Conclusion: We report on five new patients with NUBPL disease, adding to the number and phenotypic variability of patients diagnosed worldwide, and review prior reported patients with pathogenic NUBPL variants
How parents choose to use CAM: a systematic review of theoretical models
Background:
Complementary and Alternative Medicine (CAM) is widely used throughout the UK and the Western world. CAM is commonly used for children and the decision-making process to use CAM is affected by numerous factors. Most research on CAM use lacks a theoretical framework and is largely based on bivariate statistics. The aim of this review was to identify a conceptual model which could be used to explain the decision-making process in parental choice of CAM.
Methods:
A systematic search of the literature was carried out. A two-stage selection process with predetermined inclusion/exclusion criteria identified studies using a theoretical framework depicting the interaction of psychological factors involved in the CAM decision process. Papers were critically appraised and findings summarised.
Results:
Twenty two studies using a theoretical model to predict CAM use were included in the final review; only one examined child use. Seven different models were identified. The most commonly used and successful model was Andersen's Sociobehavioural Model (SBM). Two papers proposed modifications to the SBM for CAM use. Six qualitative studies developed their own model.
Conclusion:
The SBM modified for CAM use, which incorporates both psychological and pragmatic determinants, was identified as the best conceptual model of CAM use. This model provides a valuable framework for future research, and could be used to explain child CAM use. An understanding of the decision making process is crucial in promoting shared decision making between healthcare practitioners and parents and could inform service delivery, guidance and policy
Effects of environmental, source, and monitoring parameters on the Degenerate Unmixing Estimation Technique algorithm in echoic environments
This thesis researched the effects of environments, microphone spacing, and source variations on the blind sound source separation Degenerate Unmixing Estimation Technique (DUET). Sound analysis as a tool to monitor environments has become common in healthcare, consumer, and security industries. Monitoring sounds in an environment could also be applicable in the power industry to save electrical energy. The most common forms of sound analysis are sound identification and localization which use a variety of sound feature extraction and pattern recognition techniques. The most important and common problem for feature extraction in pattern recognition systems is the presence of noise from multiple sources. Sound source separation offers an innovative solution to improve sound identification and localization systems. The DUET algorithm is a blind sound source separation algorithm developed for anechoic mixtures, but previous research has suggested that the DUET algorithm\u27s performance in echoic environments should be studied. This thesis aimed to determine if the DUET algorithm is capable of detecting and separating multiple unknown sound sources in an echoic environment. This research tested the DUET algorithm\u27s performance for sound source detection and separation, to better understand the effects of the environment, microphone spacing, and source variations. The sample set consisted of two real and one clean environment, three microphone spacings, and fifteen sound source combinations. The data was collected using high quality professional grade recording equipment. Matlab was used to process the data and the researcher visually inspected all histograms and listened to all sound source estimations to analyze the DUET algorithm\u27s performance. These results were finally assessed using a success rate percentage metric. Both the DUET algorithm\u27s performance and the final results were analyzed for both physical and spatial sound sources. This research confirms that both sound source detection and separation of multiple unknown sound sources in echoic environments is possible using the DUET algorithm; however, the environment, microphone spacing, and source variations all have impacts, usually negative, on the DUET algorithm\u27s performance in echoic environments. The overall success rates were on average around 50% for both source detection and separation when only two spatial sources were present. Experiments with three or four sources showed success rates below 25%. This suggests that the DUET algorithm, without modification, is not effective for practical source detection or separation in echoic environments. While many problems exist when using the DUET algorithm in echoic environments for source detection and separation, solutions and other applications are possible using the algorithm
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NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum.
BackgroundThe nucleotide binding protein-like (NUBPL) gene was first reported as a cause of mitochondrial complex I deficiency (MIM 613621, 618242) in 2010. To date, only eight patients have been reported with this mitochondrial disorder. Five other patients were recently reported to have NUBPL disease but their clinical picture was different from the first eight patients. Here, we report clinical and genetic findings in five additional patients (four families).MethodsWhole exome sequencing was used to identify patients with compound heterozygous NUBPL variants. Functional studies included RNA-Seq transcript analyses, missense variant biochemical analyses in a yeast model (Yarrowia lipolytica) and mitochondrial respiration experiments on patient fibroblasts.ResultsThe previously reported c.815-27T>C branch-site mutation was found in all four families. In prior patients, c.166G>A [p.G56R] was always found in cis with c.815-27T>C, but only two of four families had both variants. The second variant found in trans with c.815-27T>C in each family was: c.311T>C [p.L104P] in three patients, c.693+1G>A in one patient and c.545T>C [p.V182A] in one patient. Complex I function in the yeast model was impacted by p.L104P but not p.V182A. Clinical features include onset of neurological symptoms at 3-18 months, global developmental delay, cerebellar dysfunction (including ataxia, dysarthria, nystagmus and tremor) and spasticity. Brain MRI showed cerebellar atrophy. Mitochondrial function studies on patient fibroblasts showed significantly reduced spare respiratory capacity.ConclusionWe report on five new patients with NUBPL disease, adding to the number and phenotypic variability of patients diagnosed worldwide, and review prior reported patients with pathogenic NUBPL variants