Miracle-dz/UniFAR-FTUs huggingface dataset:
Preimplantation Genetic Testing (PGT) and Prenatal Diagnosis of Schaaf-Yang Syndrome: A Report of Three Families and a Research on Genotype–Phenotype Correlations

Schaaf-Yang Syndrome (SYS) is a genetic disorder caused by truncating pathogenic variants in the paternal allele of the maternally imprinted, paternally expressed gene MAGEL2 and is characterized by genital hypoplasia, neonatal hypotonia, developmental delay, intellectual disability, autism spectrum disorder (ASD), and other features. In this study, eleven SYS patients from three families were enrolled and comprehensive clinical features were gathered regarding each family. Whole-exome sequencing (WES) was performed for the definitive molecular diagnosis of the disease. Identified variants were validated using Sanger sequencing. Three couples underwent PGT for monogenic diseases (PGT-M) and/or a prenatal diagnosis. Haplotype analysis was performed to deduce the embryo’s genotype by using the short tandem repeats (STRs) identified in each sample. The prenatal diagnosis results showed that the fetus in each case did not carry pathogenic variants, and all the babies of the three families were born at full term and were healthy. We also performed a review of SYS cases. In addition to the 11 patients in our study, a total of 127 SYS patients were included in 11 papers. We summarized all variant sites and clinical symptoms thus far, and conducted a genotype–phenotype correlation analysis. Our results also indicated that the variation in phenotypic severity may depend on the specific location of the truncating variant, suggestive of a genotype–phenotype association.
Ubiquitous Love or Not? Animal Welfare and Animal-Informed Consent in Giant Panda Tourism

Simple Summary Understanding the relationship that tourists have with the giant panda can be taken-for-granted given this species’ iconic status and cuteness. Based on a self-reporting questionnaire, we found that Chinese “fans” of giant pandas generally paid greater attention to the welfare of the captive pandas in comparison to “non-fans”. Additionally, fans tend to perceive the welfare of captive pandas more positively, who tend to believe that giant pandas offer more prominent consent to being used as tourist attractions. This study provides new insight into an understanding of the human–panda connection. The ubiquitous love we have for pandas can translate into a better life for these animals down the road. Abstract Scholars argue that the ubiquity of the “virtual panda”—the panda people meet in zoos and consume as souvenirs, online memes, or videos—exists in a state of hybridity between wild and domesticated. The species has garnered a significant amount of attention because of their iconic status and because of how cute they are to an adoring crowd. However, given the degree of regard tourists have for the panda, there is a dearth of research on different types of visitors to captive panda venues. In filling this gap, we investigated (1) how deeply Chinese “fans” and “non-fans” consider the welfare of captive giant pandas, and (2) if these groups differ in their assessment of whether giant pandas consent to being used as tourist attractions. In both aims, we apply a recent model on animal welfare and animal consent to giant pandas of the Chengdu Research Base of Giant Panda Breeding.
Discovery of a Candidate for the Central Star of the Ultracompact H II Region G5.89–0.39

We present high-resolution, near-infrared images of the ultracompact H II region G5.89-0.39 that were taken during a commissioning run of the NACO adaptive optics/near-infrared camera system at the Very Large Telescope. For the first time, these data reveal the exact location of a very promising candidate for the primary, ionizing star of this region and provide a good estimate of its spectral type. We very briefly discuss the morphology of the region and the implications of finding the star at a location where it was quite unexpected, namely, off-center of a shell.
RISC-V Instruction Set Architecture Extensions: A Survey

RISC-V is an open-source and royalty-free instruction set architecture (ISA), which opens up a new era of processor innovation. RISC-V has the characteristics of modularization and extensibility, and explicitly supports domain-specific custom extensions. Nowadays, RISC-V is a popular ISA for embedded processors. However, there is still a gap between the capabilities of RISC-V and the requirements of various emerging computing scenarios (e.g., artificial intelligence, cloud computing). Recently, the RISC-V standards organization has continuously introduced new ISA extensions to meet the needs of advanced computing. There are also a variety of novel research proposed customized extensions of RISC-V for certain scenarios. As far as we know, there is a lack of a survey to systematically present the research progress of RISC-V ISA extensions. The goal of this paper is to provide a comprehensive survey on existing works about RISC-V ISA extensions. First, the application scenarios of RISC-V are introduced, and the requirements for ISA extensions are analyzed. Then, we survey the progress of official RISC-V ISA extension specification and recent research on RISC-V ISA extension. Finally, we highlight some possible future research opportunities on the RISC-V ISA extension.
Terrestrial kilometric radiation, 1. Spatial structure studies

Observations of lunar occultations of the earth at 250 kHz, obtained with the Radio Astronomy Explorer 2 satellite, have been used to derive two-dimensional maps of the location of the sources of terrestrial kilometric radiation (TKR). By examining the two-dimensional source distributions as a function of the observer's location (lunar orbit) with respect to the magnetosphere, we can estimate the average three-dimensional location of the emission regions. Although TKR events at 250 kHz can often be observed at projected distances corresponding to the 250 kHz electron gyro or plasma level (R ∼ 2 RE), many events are observed much farther from the earth (5 ≲ R ≲ 15 RE). On the dayside we observed emission apparently in the region of the polar cusp and the magnetosheath at Λ ∼ 75°, and in the night hemisphere we find emission associated with regions of the magnetotail at Λ ≳ 70°. The nightside emission is suggestive of a mechanism involving plasma sheet electron precipitation in the premidnight sector.
Dependence of mixed-layer entrainment on shear stress and velocity jump

From rotating-screen annulus experiments the entrainment rate, we, normalized by the friction velocity, u*, has been found to be a function of both the overall Richardson number, RT, and the inverse Froude number, Rv. The RT−½ dependence deduced by Price (1979) and Thompson (1979) satisfactorily explains the present data if multiplied by an approximate Rv−1·4 dependence. The measurements indicate that Rv is a variable that is influenced by side-wall friction, time after onset of the surface stress, or other factors. The greater we/u* values of experiments of the type of Kantha, Phillips & Azad (1977) over that of the Kato & Phillips (1969) experiment can be explained by somewhat greater Rv values in the latter case. A close connection is now apparent between entrainment experiments in two-layer systems designed to have only one velocity scale (the interfacial velocity jump, Δv), and the rotating-screen annulus experiments having two velocity scales (u* and Δv). The former also have (at least) two velocity scales, the second one being associated with the presence of turbulence throughout one or both of the fluid layers. The turbulent layer is found to be quite well mixed in density only if we/u* does not exceed about 0·03, or we/|Δv| does not exceed about 0·003. The present data suggest more rapid entrainment when temperature rather than salt provides the density jump, as first noted by Turner (1968) in oscillating grid experiments. If this is a Péclet-number effect, the trend did not continue for still greater Pe values, the data for kaolin (clay) being very compatible with that for salt.
Semiclassical model of semiconductor laser noise and amplitude noise squeezing. II. Application to complex laser structures

For pt.I see ibid., vol.33, no.11, p.2097-2104 (1997). We present noise studies of distributed feedback (DFB) laser structures, where spatial hole burning (SHB) plays a key role performed using the model described in part I of this paper with particular emphasis on the influence of SHB, on the coupling coefficient /spl kappa/L, and on the laser facet reflectivities. These structures exhibit high amplitude noise and the possible noise reduction is strongly reduced compared to Fabry-Perot structures. Distributed Bragg reflector (DBR) lasers are better candidates even if their performances are also strictly determined by SHB and the loss in the Bragg reflector. Finally, limitations due to gain suppression are demonstrated for such complex lasers structures. We conclude on the optimum laser structure for amplitude squeezed states generation.
Electronic structure of nanostructured ZnO from x-ray absorption and emission spectroscopy and the local density approximation

$\mathrm{O}\phantom{\rule{0.3em}{0ex}}1s$ absorption spectroscopy (XAS) and $\mathrm{O}\phantom{\rule{0.3em}{0ex}}K\ensuremath{\alpha}$ emission spectroscopy (XES) were performed to study the electronic structure of nanostructured ZnO. The band gap is determined by the combined absorption-emission spectrum. Resonantly excited XES spectra showing an energy dependence in the spectral shape reveal the selected excitations to the different $\mathrm{Zn}\phantom{\rule{0.3em}{0ex}}3d$, $4s$, and $4p$ states in hybridization with $\mathrm{O}\phantom{\rule{0.3em}{0ex}}2p$ states. The partial density of state obtained from local density approximation (LDA) and $\mathrm{LDA}+U$ calculations are compared with the experimental results. The $\mathrm{LDA}+U$ approach is suitable to correct LDA self-interaction error of the cation $d$ states. The atomic eigenstates of $3d$ in zinc and $2p$ in oxygen are energetically close, which induces the strong interaction between $\mathrm{Zn}\phantom{\rule{0.3em}{0ex}}3d$ and $\mathrm{O}\phantom{\rule{0.3em}{0ex}}2p$ states. This anomalous valence band cation-$d$\char21{}anion-$p$ hybridization is verified by taking into account the strong localization of the $\mathrm{Zn}\phantom{\rule{0.3em}{0ex}}3d$ states.
Condylar movement analysis in subjects with clinically normal temporomandibular joints, utilizing an amorphous sensor.

The purpose of this study was to determine the range of condylar movements in normal subjects, by the use of an amorphous sensor. The pair-matched sample consisted of 17 Caucasian males (aged 25.8 +/- 2.5 years) and 17 Caucasian females (aged 25.5 +/- 2.8 years) who had no subjective or objective symptoms related to temporomandibular joint (TMJ) sounds. Bilateral condylar and jaw movements were recorded simultaneously. The results showed that the typical condylar movement points plotted on the X-Y coordinates indicated a uniform or approximately straight line, that is X = Y. The mean +/- standard deviation (s.d.) for the maximum velocity of condylar movement during the opening and closing phases was 32.6 +/- 16.9 and 39.8 +/- 21.5 mm s-1, respectively. The mean +/- s.d. for the degree of jaw opening at the turning point of condylar movement was 36.9 +/- 21.7%. Significant correlations existed between any two measurements of maximum velocity of condylar movement. Moreover, significant correlations existed between the left and right sides in the degree of jaw opening at the turning point of condylar movement. These results suggest that a range of normal values of condylar movements can be developed when utilizing the amorphous sensor method.
The Age of the Globular Cluster NGC 288, the Formation of the Galactic Halo, and the Second Parameter

A differential comparison of precise CCD photometry in the globular clusters NGC 288, NGC 362, and NGC 1261 shows that differences exist in the positions of the main-sequence turnoff in these clusters that are most naturally explained if NGC 288 is some 3 billion yr older than NGC 362 and about 1 to 2 billion yr older than NGC 1261. This implies that the formation time for the Galactic halo is significantly longer than a freefall time. Consideration of the inferred ages and horizontal-branch morphologies of the clusters Pal 12, NGC 288, NGC 362, and NGC 1261, all with similar metal abundances, suggests that age may be the parameter that, after overall metal abundance, most determines horizontal-branch morphology. 56 refs.
Titanium Dioxide Nanoparticles Modulate Systemic Immune Response and Increase Levels of Reduced Glutathione in Mice after Seven-Week Inhalation

Titanium dioxide nanoparticles (TiO2 NPs) are used in a wide range of applications. Although inhalation of NPs is one of the most important toxicologically relevant routes, experimental studies on potential harmful effects of TiO2 NPs using a whole-body inhalation chamber model are rare. In this study, the profile of lymphocyte markers, functional immunoassays, and antioxidant defense markers were analyzed to evaluate the potential adverse effects of seven-week inhalation exposure to two different concentrations of TiO2 NPs (0.00167 and 0.1308 mg TiO2/m3) in mice. A dose-dependent effect of TiO2 NPs on innate immunity was evident in the form of stimulated phagocytic activity of monocytes in low-dose mice and suppressed secretory function of monocytes (IL-18) in high-dose animals. The effect of TiO2 NPs on adaptive immunity, manifested in the spleen by a decrease in the percentage of T-cells, a reduction in T-helper cells, and a dose-dependent decrease in lymphocyte cytokine production, may indicate immunosuppression in exposed mice. The dose-dependent increase in GSH concentration and GSH/GSSG ratio in whole blood demonstrated stimulated antioxidant defense against oxidative stress induced by TiO2 NP exposure.
The information content of clear sky IASI radiances and their potential for numerical weather prediction

The estimation‐error covariance matrix associated with the analysis of the atmospheric state is used in one particular meteorological situation to examine the potential benefit of radiance data for numerical weather prediction. The gain of information content obtained from simulated Infrared Atmospheric Sounding Interferometer (IASI) data is studied and compared with the current information present in the TIROS Operational Vertical Sounder (TOVS) radiances.
Global-in-time behavior of the solution to a Gierer-Meinhardt system

Gierer-Meinhardt system is a mathematical model to describe biological pattern formation due to activator and inhibitor. Turing pattern is expected in the presence of local self-enhancement and long-range inhibition. The long-time behavior of the solution, however, has not yet been clarified mathematically. In this paper, we study the case when its ODE part takes periodic-in-time solutions, that is, $\tau=\frac{s+1}{p-1}$. Under some additional assumptions on parameters, we show that the solution exists global-in-time and absorbed into one of these ODE orbits. Thus spatial patterns eventually disappear if those parameters are in a region without local self-enhancement or long-range inhibition.
The principal eigenvalue of the ∞-Laplacian with the Neumann boundary condition

We prove the existence of a principal eigenvalue associated to the ∞-Laplacian plus lower order terms and the Neumann boundary condition in a bounded smooth domain. As an application we get uniqueness and existence results for the Neumann problem and a decay estimate for viscosity solutions of the Neumann evolution problem.
A Systematic Pan-Cancer Analysis of MEIS1 in Human Tumors as Prognostic Biomarker and Immunotherapy Target

Background: We intended to explore the potential immunological functions and prognostic value of Myeloid Ecotropic Viral Integration Site 1 (MEIS1) across 33 cancer types. Methods: The data were acquired from The Cancer Genome Atlas (TCGA), Genotype-Tissue Expression (GTEx) and Gene expression omnibus (GEO) datasets. Bioinformatics was used to excavate the potential mechanisms of MEIS1 across different cancers. Results: MEIS1 was downregulated in most tumors, and it was linked to the immune infiltration level of cancer patients. MEIS1 expression was different in various immune subtypes including C2 (IFN-gamma dominant), C5 (immunologically quiet), C3 (inflammatory), C4 (lymphocyte depleted), C6 (TGF-b dominant) and C1 (wound healing) in various cancers. MEIS1 expression was correlated with Macrophages_M2, CD8+T cells, Macrophages_M1, Macrophages_M0 and neutrophils in many cancers. MEIS1 expression was negatively related to tumor mutational burden (TMB), microsatellite instability (MSI) and neoantigen (NEO) in several cancers. Low MEIS1 expression predicts poor overall survival (OS) in adrenocortical carcinoma (ACC), head and neck squamous cell carcinoma (HNSC), and kidney renal clear cell carcinoma (KIRC) patients, while high MEIS1 expression predicts poor OS in colon adenocarcinoma (COAD) and low grade glioma (LGG) patients. Conclusion: Our findings revealed that MEIS1 is likely to be a potential new target for immuno-oncology.
Sports Participation and Academic Performance in Primary School: A Cross-Sectional Study in Chinese Children

Previous studies have demonstrated that the effect of sports participation on student health and academic performance is significant. However, the relationship between sports participation and academic performance in specific subjects (e.g., English) in the Chinese population is not clear, especially in primary schools. Therefore, the present cross-sectional study aimed to investigate the relationship between sports participation and academic performance in Chinese elementary schools. Methods: All study participants were asked to self-report their sociodemographic factors (e.g., sex, grade, age), independence, and outcomes. Alongside that, a self-reported questionnaire was used to assess participation in sports and academic performance of three core subjects in China’s schooling system (Chinese; math; English; from A to F, with A indicating the best academic performance). An ordered logistic regression, with an odds ratio (OR) at 95%CI confidence interval, was performed to examine the association between sports team participation and academic performance. Results: The final analysis included 27,954 children aged 10–14. Children in the fifth and sixth grades accounted for 50.2% and 49.8%. Chinese, math, and English academic performance were positively correlated with participation in sports. Compared with students who never participate in sports, those students who participate in sports 1–3 times a month, 1–2 times a week, and 3 or more times a week, were more likely to achieve better grades. In terms of math, compared with students who never participate in sports, those students who participate in sports 1–3 times a month, 1–2 times a week, and 3 or more times a week, were more likely to achieve better grades. Regarding English, compared with students who never participate in sports, those students who participate in sports 1–3 times a month, 1–2 times a week, and 3 or more times a week, were more likely to achieve better grades. Conclusions: Consistent with previous studies, the current study confirms the positive effect of sports participation on children’s academic performance. For an academic-related outreach, gender-, grade- and area-specific strategies should be considered in future research.
Electrospun naringin-loaded microsphere/sucrose acetate isobutyrate system promotes macrophage polarization toward M2 and facilitates osteoporotic bone defect repair

Abstract Repairing osteoporotic bone defects is still a major clinical challenge. Recent studies have revealed that immune response is also essential in osteogenesis. The intrinsic inflammatory response of the host, especially the M1/M2 polarization status and inflammatory secretory function of macrophages, can directly affect osteogenic differentiation. Therefore, in this study, an electrospun naringin-loaded microspheres/sucrose acetate isobutyrate (Ng-m-SAIB) system was constructed to investigate its effect on the polarization of macrophage and osteoporotic bone defects. The results of both in vitro and in vivo experiments showed that Ng-m-SAIB had good biocompatibility and could promote the polarization of macrophage toward M2, thereby forming a favorable microenvironment for osteogenesis. The animal experiments also showed that Ng-m-SAIB could promote the osteogenesis of critical size defects in the skull of the osteoporotic model mouse (the senescence-accelerated mouse-strain P6). Together, these results collectively suggested that Ng-m-SAIB might be a promising biomaterial to treat osteoporotic bone defects with favorable osteo-immunomodulatory effects.
Dependence of aqua‐planet simulations on time step

Aqua‐planet simulations with Eulerian and semi‐Lagrangian dynamical cores coupled to the NCAR CCM3 parametrization suite produce very different zonal average precipitation patterns. The model with the Eulerian core forms a narrow single precipitation peak centred on the sea surface temperature (SST) maximum. The one with the semi‐Lagrangian core forms a broad structure often with a double peak straddling the SST maximum with a precipitation minimum centred on the SST maximum. The different structure is shown to be caused primarily by the different time step adopted by each core and its effect on the parametrizations rather than by different truncation errors introduced by the dynamical cores themselves. With a longer discrete time step, the surface exchange parametrization deposits more moisture in the atmosphere in a single time step, resulting in convection being initiated farther from the equator, closer to the maximum source. Different diffusive smoothing associated with different spectral resolutions is a secondary effect influencing the strength of the double structure. When the semi‐Lagrangian core is configured to match the Eulerian with the same time step, a three‐time‐level formulation and same spectral truncation it produces precipitation fields similar to those from the Eulerian.