Background and purpose
Huntington's disease (HD) is a dominantly inherited neurodegenerative disorder with varied prevalence in different populations, which may be associated with specific ...haplotypes. This study aimed to explore the haplotypes encompassing the HTT gene in the Chinese population.
Methods
A total of 406 individuals with HD and 59 normal relatives from 253 families with HD were enrolled. A total of 29 tag single nucleotide polymorphisms (tSNPs) were selected and genotyped for the haplotype analysis.
Results
In stage one, we used 18 tSNPs to replicate the distribution of three major haplogroups (A, B, C). We found that risk‐associated haplogroup variants A1 and A2, enriched on Caucasian HD chromosomes, were totally absent from both Chinese HD and control chromosomes, and the distributions of haplogroups between HD and control chromosomes were similar. Therefore, in stage two, we used 29 tSNPs (including the18 tSNPs) to define new haplogroups (I, II, III) and found that haplogroup I accounted for 61.4% on HD chromosomes and 34.4% on control chromosomes, indicating that haplogroup I was enriched on Chinese HD chromosomes.
Conclusions
This is the first haplotype analysis encompassing HTT in the Chinese population. The results contribute to explaining the low prevalence of HD in China and provide a better understanding of genetic diversity in the HTT region.
The two-dimensional spin-1/2 kagome Heisenberg antiferromagnet is believed to host quantum spin liquid (QSL) states with no magnetic order, but its ground state remains largely elusive. An important ...outstanding question concerns the presence or absence of the 1/9 magnetization plateau, where exotic quantum states, including topological ones, are expected to emerge. Here we report the magnetization of a recently discovered kagome QSL candidate YCu_{3}(OH)_{6.5}Br_{2.5} up to 57 T. Above 50 T, a clear magnetization plateau at 1/3 of the saturation moment of Cu^{2+} ions is observed, supporting that this material provides an ideal platform for the kagome Heisenberg antiferromagnet. Remarkably, we found another magnetization plateau around 20 T, which is attributed to the 1/9 plateau. The temperature dependence of this plateau reveals the presence of the spin gap. The observation of 1/9 and 1/3 plateaus highlights the emergence of novel states in quantum spin systems.The two-dimensional spin-1/2 kagome Heisenberg antiferromagnet is believed to host quantum spin liquid (QSL) states with no magnetic order, but its ground state remains largely elusive. An important outstanding question concerns the presence or absence of the 1/9 magnetization plateau, where exotic quantum states, including topological ones, are expected to emerge. Here we report the magnetization of a recently discovered kagome QSL candidate YCu_{3}(OH)_{6.5}Br_{2.5} up to 57 T. Above 50 T, a clear magnetization plateau at 1/3 of the saturation moment of Cu^{2+} ions is observed, supporting that this material provides an ideal platform for the kagome Heisenberg antiferromagnet. Remarkably, we found another magnetization plateau around 20 T, which is attributed to the 1/9 plateau. The temperature dependence of this plateau reveals the presence of the spin gap. The observation of 1/9 and 1/3 plateaus highlights the emergence of novel states in quantum spin systems.
Poly(vinylidene fluoride)/graphite nanoplatelets (PVDF/GNP) composites were fabricated using solution mixing followed by compression molding. The electric conducting and dielectric behavior of such ...nanocomposites were determined over a wide frequency range from 10
2 to 10
7. The results showed that the electrical behavior of PVDF/GNP nanocomposites can be well described by the percolation theory. Both conductivity and dielectric constant were found to be greatly enhanced at the percolation threshold. A large dielectric constant of 173 and low loss tangent of 0.65 were observed in the PVDF/2.5
wt% GNP nanocomposite at 1
kHz. Moreover, dynamic mechanical analysis was also used to characterize the relaxations of polymers in PVDF/GNP nanocomposites. Dielectric and mechanical relaxations of PVDF/GNP nanocomposites showed strong dependence with frequency and temperature. The activation energy for glass transition determined from mechanical relaxation is considerably higher than that evaluated from the dielectric analysis. This resulted from different operating mechanisms for dielectric and mechanical relaxation processes.
Expansion of real numbers is a basic research topic in number theory. Usually we expand real numbers in one given base. In this paper, we begin to systematically study expansions in multiple given ...bases in a reasonable way, which is a generalization in the sense that if all the bases are taken to be the same, we return to the classical expansions in one base. In particular, we focus on greedy, quasi-greedy, lazy, quasi-lazy and unique expansions in multiple bases.
The galvanic replacement reaction between a Ag template and HAuCl4 in an aqueous solution transforms 30–200 nm Ag nanocubes into Au nanoboxes and nanocages (nanoboxes with porous walls). By ...controlling the molar ratio of Ag to HAuCl4, the extinction peak of resultant structures can be continuously tuned from the blue (400 nm) to the near‐infrared (1200 nm) region of the electromagnetic spectrum. These hollow Au nanostructures are characterized by extraordinarily large cross‐sections for both absorption and scattering. Optical coherence tomography measurements indicate that the 36 nm nanocage has a scattering cross‐section of ∼ 0.8 × 10–15 m2 and an absorption cross‐section of ∼ 7.3 × 10–15 m2. The absorption cross‐section is more than five orders of magnitude larger than those of conventional organic dyes. Exposure of Au nanocages to a camera flash resulted in the melting and conversion of Au nanocages into spherical particles due to photothermal heating. Discrete‐dipole‐approximation calculations suggest that the magnitudes of both scattering and absorption cross‐sections of Au nanocages can be tailored by controlling their dimensions, as well as the thickness and porosity of their walls. This novel class of hollow nanostructures is expected to find use as both a contrast agent for optical imaging in early stage tumor detection and as a therapeutic agent for photothermal cancer treatment.
Hollow Au nanostructures (see Figure) have been synthesized by the galvanic replacement reaction between a Ag template and HAuCl4 so that their surface plasmon resonance peaks can be continuously tuned from 400 to 1200 nm. The Au nanostructures, with extraordinarily large cross‐sections for both absorption and scattering, are expected to find uses as both contrast agents for optical imaging in early‐stage tumor detection and as therapeutic agents for photothermal cancer treatment.
Identifying the exact transmission route(s) of infectious diseases in indoor environments is a crucial step in developing effective intervention strategies. In this study, we proposed a comparative ...analysis approach and built a model to simulate outbreaks of 3 different in‐flight infections in a similar cabin environment, that is, influenza A H1N1, severe acute respiratory syndrome (SARS) coronavirus (CoV), and norovirus. The simulation results seemed to suggest that the close contact route was probably the most significant route (contributes 70%, 95% confidence interval CI: 67%‐72%) in the in‐flight transmission of influenza A H1N1 transmission; as a result, passengers within 2 rows of the index case had a significantly higher infection risk than others in the outbreak (relative risk RR: 13.4, 95% CI: 1.5‐121.2, P = .019). For SARS CoV, the airborne, close contact, and fomite routes contributed 21% (95% CI: 19%‐23%), 29% (95% CI: 27%‐31%), and 50% (95% CI: 48%‐53%), respectively. For norovirus, the simulation results suggested that the fomite route played the dominant role (contributes 85%, 95% CI: 83%‐87%) in most cases; as a result, passengers in aisle seats had a significantly higher infection risk than others (RR: 9.5, 95% CI: 1.2‐77.4, P = .022). This work highlighted a method for using observed outbreak data to analyze the roles of different infection transmission routes.
A
bstract
Coherent elastic neutrino-nucleus scattering (CE
ν
NS) represents a powerful tool to investigate key electroweak physics parameters and neutrino properties since its first observation in ...2017 by the COHERENT experiment exploiting the spallation neutron source at Oak Ridge National Laboratory. In light of the recent detection of such a process with antineutrinos produced by the Dresden-II reactor scattering off a germanium detector, we revisit the limits so far set on the neutrino magnetic moments, charge radii and millicharges as well as on the weak mixing angle. In order to do so, we also include the contribution of elastic neutrino-electron scattering, whose effect becomes non negligible in some beyond the Standard Model theories. By using different hypotheses for the germanium quenching factor and the reactor antineutrino flux, we provide a measurement of the weak mixing angle at the low-energy scale of the Dresden-II reactor experiment and, thanks to a combined analysis with the latest cesium iodide and argon data set released by the COHERENT Collaboration, we deliver updated limits for the neutrino electromagnetic properties. Interestingly, we are able to set a new best upper limit on the electron neutrino charge radius and significantly improve the other CE
ν
NS-related limits on the neutrino electric charge and magnetic moment.
In this study, an inexact-chance-constrained water quality management (ICC-WQM) model is developed for planning regional environmental management under uncertainty. This method is based on an ...integration of interval linear programming (ILP) and chance-constrained programming (CCP) techniques. ICC-WQM allows uncertainties presented as both probability distributions and interval values to be incorporated within a general optimization framework. Complexities in environmental management systems can be systematically reflected, thus applicability of the modeling process can be highly enhanced. The developed method is applied to planning chemical-industry development in Binhai New Area of Tianjin, China. Interval solutions associated with different risk levels of constraint violation have been obtained. They can be used for generating decision alternatives and thus help decision makers identify desired policies under various system-reliability constraints of water environmental capacity of pollutant. Tradeoffs between system benefits and constraint-violation risks can also be tackled. They are helpful for supporting (a) decision of wastewater discharge and government investment, (b) formulation of local policies regarding water consumption, economic development and industry structure, and (c) analysis of interactions among economic benefits, system reliability and pollutant discharges.
► An inexact-chance-constrained water quality management model is applied. ► Complexities in water quality management can be systematically reflected. ► The allowable pollutant discharge were obtained by ODWM and Monte Carlo simulation. ► The interval solution can be useful for generating multiple decision alternatives.
In this open-label randomized clinical trial, HLA-identical sibling-matched hematopoietic stem cells (HSC) were transplanted (non-MSCs group, n=15) or cotransplanted with mesenchymal stem cells ...(MSCs) (MSCs group, n=10) in hematologic malignancy patients. The median number of MSCs infused was 3.4 x 10(5) kg(-1) (range, 0.3-15.3 x 10(5) kg(-1)). MSCs infusions were well tolerated. The median time to neutrophil engraftment (absolute neutrophil count >0.5 x 10(9) l(-1)) was 16 days for MSCs group and 15 days for non-MSCs group. The median time to platelet engraftment (platelet count >50 x 10(9) l(-1)) was 30 and 27 days, respectively. Grades II-IV acute graft-versus-host disease (GVHD) was observed respectively, in one (11.1%) and eight (53.3%) evaluable patients. Chronic GVHD was found in one (14.3%) and four (28.6%) evaluable patients. The number of patients who relapsed were six (60.0%) and three (20.0%), and the 3-year disease-free survivals were 30.0 and 66.7%, respectively. Thus cotransplantation of MSCs and HSCs may prevent GVHD, but the relapse rate is obviously higher than the control group. We conclude that use of MSCs must be handled with extreme caution before a large-scale clinical trial is performed.
Atmospheric particulate matter (PM) remains poorly understood due to the lack of comprehensive measurements at high time resolution for tracking its dynamic features and the lack of long-term ...observation for tracking its seasonal variability. Here, we present highly time-resolved and seasonal compositions and characteristics of non-refractory components in PM with a diameter less than 1 mu m (NR-PM1) at a suburban site in Hong Kong. The measurements were made with an Aerodyne high-resolution time-of-flight aerosol mass spectrometer (HR-ToF-AMS) at the Hong Kong University of Science and Technology (HKUST) Air Quality Research Supersite for 4 months, with one in each season of the year. The average NR-PM1 concentration of similar to 15 mu g m super(-3) is higher than those AMS measurements made in South Korea and Japan, but lower than those in North China, the Yangtze River Delta and the nearby Pearl River Delta. The seasonal dependence of the total NR-PM1 monthly averaged concentrations was small, but that of the fractions of the species in NR-PM1 was significant. Site characteristic plays an important role in the relative fractions of species in NR-PM1 and our results are generally consistent with measurements at other non-urban sites in this regard. Detailed analyses were conducted on the AMS data in the aspects of (1) species concentrations, (2) size distributions, (3) degree of oxygenation of organics, and (4) positive matrix factorization (PMF)-resolved organic factors in a seasonal context, as well as with air mass origin from back-trajectory analysis. Sulfate had the highest fraction in NR-PM1 (> 40%), and the surrogates of secondary organic species - semi-volatile oxygenated organic aerosol (SVOOA) and low-volatility oxygenated organic aerosol (LVOOA) - prevailed ( similar to 80%) in the organic portion of NR-PM1. Local contributions to the organic portion of NR-PM1 at this suburban site was strongly dependent on season. The hydrocarbon-like organic aerosol (HOA) factor related to local traffic emissions contributed > 10% to organic aerosols in spring and summer but only 6-7% in autumn and winter. The cooking organic aerosol (COA) factor contributed > 10% to organic aerosols in winter. With the aid of highly time-resolved data, diurnal patterns of the degree of oxygenation of organic aerosols were used to determine the sources and formation processes of the least understood organic portion of PM. The oxygen-to-carbon atomic ratio (O : C) and average carbon oxidation state OS C) showed little variation in autumn and winter, when the long-range transport of oxidized organics dominated, whereas they peaked in the afternoon in spring and summer, when locally produced secondary organic aerosol prevailed. Air mass origin, in contrast, had a strong influence on both NR-PM1 concentrations and the fractions of species in NR-PM1. The findings of the current study provide a better understanding of the role of air mass origin in the seasonal characteristics of the PM composition and the relative importance of local vs. transported organic aerosols in this region.
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