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The KLD segment of the Kenweiyuan section in Wenchang, Hainan, China is a set of aeolian sand deposits of the Last Deglaciation. The chemical element and heavy mineral analysis performed in this study reveals the chemical index of alteration (CIA) in the segment to be as high as 93–95, with all the heavy minerals identified as stable and extremely stable making up 38–45% of the total. Furthermore, the zircon, tourmaline, and rutile content (ZTR index) of the segment is determined to range between 48–71. The (Al2O3 + TOFE)/SiO2 ratios display obvious fluctuations from old to new strata in the segment, with the low values corresponding to Heinrich event (H1), Dansgaard-Oeschager (D-O), and Younger Dryas (YD) and the high values corresponding to Bølling and Allerød. Our study suggests that these fluctuations are attributed to the alternation of the East Asian winter and summer monsoons. Hainan Island is also impacted by the surface ocean climate of the South China Sea, and characteristics of the KLD segment may be connected to the climate changes in the North Atlantic related to the winter monsoon season or westerlies. Furthermore, the segment presents a clear response to millennium-scale climate changes during the Last Deglaciation on Hainan Island. Based on the high CIA values in the KLD segment, and particularly due to the observed stable detrital minerals, the ratios can be linked to the overall tropical climate, indicating a relatively warm tropical climate environment in the Last Deglaciation in Hainan. The high CIA values also reveal the cause of aeolian sand formation under the tropical environmental conditions in the low latitude region of China in the Late Quaternary. [ABSTRACT FROM AUTHOR]

Background: Non-invasive prenatal screening (NIPS) is a highly sensitive and specific screening test to detect fetal chromosomal abnormalities. The primary objective of this study was to evaluate the NIPS as an effective method for prenatal detection of aneuploidies in both high-risk and low-risk pregnancies. Methods: In current study, we performed NIPS in 32,394 pregnancies, out of which results were available in 32,361 (99.9%) of them. Illumina sequencing was performed for NIPS screening. Hypothesis Z test was used to classify fetal autosomal aneuploidy of T21, T18, and T13. Karyotyping was performed to determine the true negative and true positive NIPS results. Results: Among the 32,361 confirmed samples, 164 cases had positive results and 32197 cases had negative results. Of these positive cases, 116 cases were trisomy 21, 34 cases were trisomy 18 and 14 cases were trisomy 13. No false negative results were found in this cohort. The overall sensitivity and specificity were 100% and 99.91%, respectively. There was no significant difference in test performance between the 7,316 high-risk and 25,045 low-risk pregnancies, (sensitivity, 100% vs 100% (P>0.05); specificity, 99.96% vs 99.95% (P > 0.05)). Factors contributing to false-positive results included fetal copy number variants (CNVs), fetal mosaicism and typically producing Z scores between 3 and 4. Moreover, we analyzed NIPS wholegenome sequencing to investigate the Single Nucleotide Polymorphisms (SNPs) associations with drug response or risk of disease. As compare to the 1000g East Asian genome data, the results revealed a significant difference in 7,285,418 SNPs variants of Shanxi pregnant women including 19,293 clinvar recorded variants and 7,266,125 non-clinvar recorded. Conclusions: Our findings showed that NIPS was an effective assay that may be applied as routine screening for fetal trisomies in the prenatal setting. In addition, this study also provides an accurate assessment of significant differences in 7,285,418 SNPs variants in Shanxi pregnant women that were previously unavailable to clinicians in Shanxi population.

Plasmon‐free surface‐enhanced Raman spectroscopy (SERS) assisted by charge‐transfer (CT) resonance in semiconductors has drawn considerable attention in the past decades due to the extraordinary advantages in chemical stability and homogeneity. Unfortunately, the weak confinement of excitation light in semiconductor nanostructures and 2D materials, due to either their limited refractive indexes or atomic thickness, results in the Raman enhancement by nonmetallic SERS substrates significantly lower than the noble ones. Here a novel plasmon‐free SERS probe is reported by a tapered optical fiber (TOF) coated with monolayer‐MoS2 (ML‐MoS2), where the TOF‐supported whispering‐gallery modes (WGMs) simultaneously regulate multiple‐resonance processes, i.e., excitonic resonance, molecular resonance, charge‐transfer resonance and fluorescence resonance energy transfer processes, in the ML‐MoS2 and analytes. The contribution of the four processes promoted by WGM to enhancement factor of Raman intensity (EFRI) is quantitatively determined by four dye molecules with different energy levels. The Raman enhancement mechanism of WGM‐promoted multiple‐resonances is therefore revealed, for the first time. The maximum EFRI is up to 1.8 × 109 for the limit of detection (LoD) down to 10−14 M. The ML‐MoS2/TOF SERS probes also demonstrated their outstanding feasibility and stability facilitating to trace detection in microdroplets for practical applications in future. [ABSTRACT FROM AUTHOR]

Background: Hereditary tyrosinemia type III (HT III) is an extremely rare form of tyrosinemia, characterized by autosomal recessive inheritance and biallelic mutations in the HPD gene. The clinical presentation of HT III is variable and poorly understood, with symptoms ranging from developmental delay and intellectual impairment to seizures and intermittent ataxia. This study aimed to provide further insights into the clinical and genetic characteristics of HT III. Methods: A 3‐year‐old girl, identified through newborn screening, was diagnosed with HT III using targeted next‐generation sequencing. A comprehensive literature review was conducted, and the clinical, biochemical, and genetic findings of previously reported HT III patients were summarized and analyzed. Results: The genetic analysis of the proband revealed compound heterozygous mutations in the HPD gene such as c.731C>T (p.A244V) and c.656C>T (p.T219M). Notably, the HPD p.A244V mutation had not been previously documented in public databases or the scientific literature. Bioinformatics analysis classified both variants as pathogenic variants. The patient exhibited persistent tyrosinemia, elevated levels of related metabolite derivatives, confirming the diagnosis of HT III. The review of previously published cases contributed to a better understanding of the clinical and genetic characteristics associated with HT III. Conclusion: Early diagnosis and prompt treatment in infancy are crucial for managing HT III effectively. Dietary therapy, particularly during childhood, plays a significant role in disease management. The findings from this study enhance our understanding of the genotype–phenotype associations in HT III and emphasize the importance of early intervention for improved patient outcomes. [ABSTRACT FROM AUTHOR]

A Ku band coaxial high power microwave generator with a low magnetic field was investigated without mode competition in this paper. Mode competition is avoided physically by adopting a two-cavity extractor instead of a three-cavity extractor to eliminate the resonance between the modulation slow wave structure and the extractor slow wave structure at any unexpected frequency except the working frequency. Moreover, the efficiency of the device increases due to the separation process of energy extraction and electron collection by adopting the inner conductor collecting structure. Particle simulation results showed that when the magnetic flux density is 0.6 T, the diode voltage is 560 kV, and the diode current is 8 kA, we get 1.55 GW microwaves with an efficiency of 35% and a frequency of 14.7 GHz. Experimental investigation is carried out based on the physical design and simulation results. 1.0 GW microwaves are obtained, and the frequency is 14.8 GHz in the experiment when the magnetic flux density is 0.64 T, the diode voltage is 590 kV, and the diode current is 8.5 kA. No obvious hint of electron emission or bombardment is observed at the surface of the generator after 10 thousand pulses, and the advantage of this kind of generator working in a low magnetic field is proved. [ABSTRACT FROM AUTHOR]

Monolayer transition metal dichalcogenides (ML‐TMDCs) possess degenerate levels with antiparallel spins in K and K′ valleys, providing the intrinsic valley polarization, which attracts great interest for potential applications on quantum information technology and on‐chip nanophotonics. Unfortunately, it is difficult to distinguish the degree of valley polarization (DoP) near room temperature due to the intensive phonon‐assisted intervalley scattering and the long‐range electron‐hole exchange interaction in ML‐TMDCs, limiting their practical applications. In this study, a novel design is proposed for great promotion of DoP in ML‐WSe2 with a microsphere cavity array, introducing Purcell effect and nanofocusing effect into the system. The radiative decay rate is dramatically enhanced owing to Purcell effect in microcavity in weak coupling regime, thus locking more polarized excitons in the corresponding valley under certain circularly‐polarized pumping. In addition, the nanofocusing effect contributes to increasing the number of charged excitons by suppressing the bright to dark exciton conversion. The present work achieves a great DoP of ML‐WSe2 with a simple configuration and promises broad applications from valleytronic devices to chiral optics in the future. [ABSTRACT FROM AUTHOR]