403 research outputs found
GNA11 brain somatic pathogenic variant in an individual with phacomatosis pigmentovascularis
Objective:
To describe the findings of histopathology and genotyping studies in affected brain tissue from
an individual with phacomatosis pigmentovascularis (PPV). /
Methods:
A retrospective chart review of a 2-year 10-month-old male with a clinical diagnosis of PPV
cesiomarmorata (or type V) was performed. Clinical features, brain imaging and histopathology
findings, and genotyping studies in his affected brain tissue are summarized. /
Results:
The proband had a clinically severe neurologic phenotype characterized by global developmental delay, generalized hypotonia, and recurrent episodes of cardiac asystole in the
setting of status epilepticus. A somatic pathogenic variant in GNA11 (c.547C>T, p.Arg183Cys)
was detected in his skin tissue but not in blood (previously published). He underwent an urgent
left posterior quadrantectomy for his life-threatening seizures. Histopathology of resected brain
tissue showed an increase in leptomeningeal melanocytes and abnormal vasculature, and the
exact pathogenic variant in GNA11 (c.547C>T, p.Arg183Cys), previously isolated from his skin
tissue but not blood, was detected in his resected brain tissue. /
Conclusions:
The finding of this variant in affected skin and brain tissue of our patient with PPV supports
a unifying genetic diagnosis of his neurocutaneous features
Controlled synthesis of high-ortho-substitution phenol-formaldehyde resins
The relationship between the use of 19 kinds of metal catalysts and the proportion of ortho-ortho links of novolac resins was studied. The proportion of ortho-ortho links of novolac resins was characterized with Fourier transform infrared, H-1-NMR, and C-13-NMR. The effects of different catalysts and different reaction conditions, such as the molar ratio of phenol to formaldehyde, the pH value of the reaction, and the reaction time, were examined. Phenolformaldehyde resins were synthesized with a certain proportion of the ortho position through the adjustment of the reaction conditions. (c) 2005 Wiley Periodicals, Inc
The reactivity ratios of group transfer copolymerization of acrylonitrile with methacrylates
Random copolymerization have been performed for three binary systems using 1-methoxy-2-methyl-1-trimethylsilyloxy propene(initiator) and tetrabutylammonium bibenzoate(catalyst) in tetrahydrofuran solution. The copolymer compositions were determined by elementary analysis for nitrogen and the results evaluated by the Kelen-Tudos method, The monomer pairs concerned are (1) acrylonitrile(AN) and methyl methacrylate(MMA), (2) AN and ethyl methacrylate(EMA), (3) AN and butyl methacrylate(BMA), The reactivity ratios determined in this study are: (1) r(AN)=10.22, r(MMA)=0.07; (2)r(AN)= 5.68, r(EMA)=0.16; (3) r(AN)=8.59, r(BMA)=0.09
Self-propelled swimming of a flexible plunging foil near a solid wall
Numerical simulations are conducted to investigate the influences of a solid wall on the self-propelled swimming of a flexible plunging foil. It is found that the presence of a solid wall enhances the cruising speed, with the cost of increasing input power. Rigid foil can achieve high percentage increase in cruising speed when swimming near a solid wall, but the propulsive efficiency may be reduced. Foils with some flexibility can enjoy the enhancements in both cruising speed and propulsive efficiency. Another advantage of the flexible foils in near-wall swimming is that smaller averaged lateral forces are produced. The effects of wall confinement on the wake structure and the vortex dynamics are also studied in this paper. The results obtained in this study shed some light on the unsteady wall effect experienced by aquatic animals and also inform the design of bio-mimetic underwater vehicles which are capable of exploiting the wall effect
Spatial and seasonal distributions of carbonaceous aerosols over China
Author name used in this publication: S. C. LeeAuthor name used in this publication: S. H. Qi2007-2008 > Academic research: refereed > Publication in refereed journalVersion of RecordPublishe
Direct linearly polarized electroluminescence from perovskite nanoplatelet superlattices
Polarized light is critical for a wide range of applications, but is usually generated by filtering unpolarized light, which leads to substantial energy losses and requires additional optics. Here we demonstrate the direct emission of linearly polarized light from light-emitting diodes made of CsPbI3 perovskite nanoplatelet superlattices. The use of solvents with different vapour pressures enables the self-assembly of the nanoplatelets with fine control over their orientation (either face-up or edge-up) and therefore their transition dipole moment. As a result of the highly uniform alignment of the nanoplatelets, as well as their strong quantum and dielectric confinement, large exciton fine-structure splitting is achieved at the film level, leading to pure red light-emitting diodes with linearly polarized electroluminescence exhibiting a high degree of polarization of 74.4% without any photonic structures. This work demonstrates the potential of perovskite nanoplatelets as a promising source of linearly polarized light, opening up the development of next-generation three-dimensional displays and optical communications from a highly versatile, solution-processable system
Search for Charged Higgs Bosons in e+e- Collisions at \sqrt{s} = 189 GeV
A search for pair-produced charged Higgs bosons is performed with the L3
detector at LEP using data collected at a centre-of-mass energy of 188.6 GeV,
corresponding to an integrated luminosity of 176.4 pb^-1. Higgs decays into a
charm and a strange quark or into a tau lepton and its associated neutrino are
considered. The observed events are consistent with the expectations from
Standard Model background processes. A lower limit of 65.5 GeV on the charged
Higgs mass is derived at 95 % confidence level, independent of the decay
branching ratio Br(H^{+/-} -> tau nu)
Glucuronidation by UGT1A1 Is the Dominant Pathway of the Metabolic Disposition of Belinostat in Liver Cancer Patients
10.1371/journal.pone.0054522PLoS ONE81
Cleanup of industrial effluents containing heavy metals : a new opportunity of valorising the biomass produced by brewing industry
Heavy metal pollution is a matter of concern in industrialised countries. Contrary to organic pollutants, heavy metals are not metabolically degraded. This fact has two main consequences: its bioremediation requires another strategy and heavy metals can be indefinitely recycled. Yeast cells of Saccharomyces cerevisiae are produced at high amounts as a by-product of brewing industry constituting a cheap raw material. In the present work, the possibility of valorising this type of biomass in the bioremediation of real industrial effluents containing heavy metals is reviewed. Given the auto-aggregation capacity (flocculation) of brewing yeast cells, a fast and off-cost yeast separation is achieved after the treatment of metal-laden effluent, which reduces the costs associated with the process. This is a critical issue when we are looking for an effective, eco-friendly, and low-cost technology. The possibility of the bioremediation of industrial effluents linked with the selective recovery of metals, in a strategy of simultaneous minimisation of environmental hazard of industrial wastes with financial benefits from reselling or recycling the metals, is discussed
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