739 research outputs found
IDS mutation in a Chinese MPS II patient Case report
Background: Mucopolysaccharidosis type II (MPS II; also known as Hunter syndrome) is an X-linked multisystem disorder resulting from the defective activity of the enzyme iduronate-2-sulfatase (IDS). Genetic testing is crucial in clarifying and diagnosing different types of MPS diseases. In this paper we report a novel IDS nonsense mutation resulting in MPS II in several patients from a Chinese family. Methods: IDS enzyme activity, polymerase chain reaction, and DNA sequencing were performed to confirm the diagnosis of MPS II. Results: Three patients had no detectable IDS activity. Two genetic tests revealed a novel IDS nonsense mutation (c.1030G>T, p.E344X) inherited from their mothers. The nonsense mutation shortened the peptide chain from 550 to 344 amino acids, which is believed to be a disease-causing mutation. Conclusions: MPS II is inherited in an X-linked manner. The risk to sibs depends on the carrier status of the mother. Genetic testing is necessary to identify disease-causing mutation. With this information, carrier testing for at-risk female relatives and prenatal testing for pregnancies at increased risk become possible. World J Pediatr 2012;8(3):281-28
Lumbar spinal stenosis: an update on the epidemiology, diagnosis and treatment
Lumbar spinal stenosis (LSS) is a common spinal disorder in the older population, and the clinical syndrome consisting of pain in the buttock or lower extremity, with or without low back pain and corresponding imaging findings of narrowing of spaces around neural and vascular elements in the lumbar spine. The diagnosis depends on history, symptoms, physical examination, radiographies. Varieties of non-operative and operative options are available for LSS patients. In this article, an update on the epidemiology, diagnosis and treatment of LSS was reviewed.published_or_final_versio
Hormonal regulation of ovarian bursa fluid in mice and involvement of aquaporins.
In rodent species, the ovary and the end of oviduct are encapsulated by a thin membrane called ovarian bursa. The biological functions of ovarian bursa remain unexplored despite its structural arrangement in facilitating oocytes transport into oviduct. In the present study, we observed a rapid fluid accumulation and reabsorption within the ovarian bursa after ovarian stimulation (PMSG-primed hCG injection), suggesting that the ovarian bursa might play an active role in regulating local fluid homeostasis around the timing of ovulation. We hypothesized that the aquaporin proteins, which are specialized channels for water transport, might be involved in this process. By screening the expression of aquaporin family members (Aqp1-9) in the ovarian tissue and isolated ovarian bursa (0, 1, 2 and 5 h after hCG injection), we found that AQP2 and AQP5 mRNA showed dynamic changes after hCG treatment, showing upregulation at 1-2 h followed by gradually decrease at 5 h, which is closely related with the intra-bursa fluid dynamics. Further immunofluorescence examinations of AQP2 and AQP5 in the ovarian bursa revealed that AQP2 is specifically localized in the outer layer (peritoneal side) while AQP5 localized in the inner layer (ovarian side) of the bursa, such cell type specific and spatial-temporal expressions of AQP2 and 5 support our hypothesis that they might be involved in efficient water transport through ovarian bursa under ovulation related hormonal regulation. The physiological significance of aquaporin-mediated water transport in the context of ovarian bursa still awaits further clarification
IACT observations of gamma-ray bursts: prospects for the Cherenkov Telescope Array
Gamma rays at rest frame energies as high as 90 GeV have been reported from
gamma-ray bursts (GRBs) by the Fermi Large Area Telescope (LAT). There is
considerable hope that a confirmed GRB detection will be possible with the
upcoming Cherenkov Telescope Array (CTA), which will have a larger effective
area and better low-energy sensitivity than current-generation imaging
atmospheric Cherenkov telescopes (IACTs). To estimate the likelihood of such a
detection, we have developed a phenomenological model for GRB emission between
1 GeV and 1 TeV that is motivated by the high-energy GRB detections of
Fermi-LAT, and allows us to extrapolate the statistics of GRBs seen by lower
energy instruments such as the Swift-BAT and BATSE on the Compton Gamma-ray
Observatory. We show a number of statistics for detected GRBs, and describe how
the detectability of GRBs with CTA could vary based on a number of parameters,
such as the typical observation delay between the burst onset and the start of
ground observations. We also consider the possibility of using GBM on Fermi as
a finder of GRBs for rapid ground follow-up. While the uncertainty of GBM
localization is problematic, the small field-of-view for IACTs can potentially
be overcome by scanning over the GBM error region. Overall, our results
indicate that CTA should be able to detect one GRB every 20 to 30 months with
our baseline instrument model, assuming consistently rapid pursuit of GRB
alerts, and provided that spectral breaks below 100 GeV are not a common
feature of the bright GRB population. With a more optimistic instrument model,
the detection rate can be as high as 1 to 2 GRBs per year.Comment: 28 pages, 24 figures, 4 tables, submitted to Experimental Astronom
Observation of a ppb mass threshoud enhancement in \psi^\prime\to\pi^+\pi^-J/\psi(J/\psi\to\gamma p\bar{p}) decay
The decay channel
is studied using a sample of events collected
by the BESIII experiment at BEPCII. A strong enhancement at threshold is
observed in the invariant mass spectrum. The enhancement can be fit
with an -wave Breit-Wigner resonance function with a resulting peak mass of
and a
narrow width that is at the 90% confidence level.
These results are consistent with published BESII results. These mass and width
values do not match with those of any known meson resonance.Comment: 5 pages, 3 figures, submitted to Chinese Physics
Research on the relation of EEG signal chaos characteristics with high-level intelligence activity of human brain
Using phase space reconstruct technique from one-dimensional and multi-dimensional time series and the quantitative criterion rule of system chaos, and combining the neural network; analyses, computations and sort are conducted on electroencephalogram (EEG) signals of five kinds of human consciousness activities (relaxation, mental arithmetic of multiplication, mental composition of a letter, visualizing a 3-dimensional object being revolved about an axis, and visualizing numbers being written or erased on a blackboard). Through comparative studies on the determinacy, the phase graph, the power spectra, the approximate entropy, the correlation dimension and the Lyapunov exponent of EEG signals of 5 kinds of consciousness activities, the following conclusions are shown: (1) The statistic results of the deterministic computation indicate that chaos characteristic may lie in human consciousness activities, and central tendency measure (CTM) is consistent with phase graph, so it can be used as a division way of EEG attractor. (2) The analyses of power spectra show that ideology of single subject is almost identical but the frequency channels of different consciousness activities have slight difference. (3) The approximate entropy between different subjects exist discrepancy. Under the same conditions, the larger the approximate entropy of subject is, the better the subject's innovation is. (4) The results of the correlation dimension and the Lyapunov exponent indicate that activities of human brain exist in attractors with fractional dimensions. (5) Nonlinear quantitative criterion rule, which unites the neural network, can classify different kinds of consciousness activities well. In this paper, the results of classification indicate that the consciousness activity of arithmetic has better differentiation degree than that of abstract
GLP-1 receptor signalling promotes β-cell glucose metabolism via mTOR-dependent HIF-1α activation
Glucagon-like peptide-1 (GLP-1) promotes insulin secretion from pancreatic ß-cells in a glucose dependent manner. Several pathways mediate this action by rapid, kinase phosphorylation-dependent, but gene expression-independent mechanisms. Since GLP-1-induced insulin secretion requires glucose metabolism, we aimed to address the hypothesis that GLP-1 receptor (GLP-1R) signalling can modulate glucose uptake and utilization in ß-cells. We have assessed various metabolic parameters after short and long exposure of clonal BRIN-BD11 ß-cells and rodent islets to the GLP-1R agonist Exendin-4 (50 nM). Here we report for the first time that prolonged stimulation of the GLP-1R for 18 hours promotes metabolic reprogramming of ß-cells. This is evidenced by up-regulation of glycolytic enzyme expression, increased rates of glucose uptake and consumption, as well as augmented ATP content, insulin secretion and glycolytic flux after removal of Exendin-4. In our model, depletion of Hypoxia-Inducible Factor 1 alpha (HIF-1a) impaired the effects of Exendin-4 on glucose metabolism, while pharmacological inhibition of Phosphoinositide 3-kinase (PI3K) or mTOR completely abolished such effects. Considering the central role of glucose catabolism for stimulus-secretion coupling in ß-cells, our findings suggest that chronic GLP-1 actions on insulin secretion include elevated ß-cell glucose metabolism. Moreover, our data reveal novel aspects of GLP-1 stimulated insulin secretion involving de novo gene expression
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