Explore the vast range of titles available.

Purpose The aim of this study was to assess the detection efficiency and clinical application value of non-invasive prenatal testing (NIPT) for foetal copy number variants (CNVs) in clinical samples from 39,002 prospective cases. Methods A total of 39,002 pregnant women who received NIPT by next-generation sequencing (NGS) with a sequencing depth of 6 M reads in our centre from January 2018 to April 2020 were enrolled. Chromosomal microarray analysis (CMA) was further used to diagnose suspected chromosomal aneuploidies and chromosomal microdeletion/microduplication for consistency assessment. Results A total of 473 pregnancies (1.213%) were positive for clinically significant foetal chromosome abnormalities by NIPT. This group comprised 99 trisomy 21 (T21, 0.254%), 30 trisomy 18 (T18, 0.077%), 25 trisomy 13 (T13, 0.064%), 155 sex chromosome aneuploidy (SCA, 0.398%), 69 rare trisomy (0.177%), and 95 microdeletion/microduplication syndrome (MMS, 0.244%) cases. Based on follow-up tests, the positive predictive values (PPVs) for the T21, T18, T13, SCA, rare trisomy, and MMS cases were calculated to be 88.89%, 53.33%, 20.00%, 40.22%, 4.88%, and 49.02%, respectively. In addition, the PPVs of CNVs of < 5 Mb, 5–10 Mb, and > 10 Mb were 54.55%, 38.46%, and 40.00%, respectively. Among the 95 cases with suspected CNVs, 25 were diagnosed as true positive and 26 cases as false positive; follow-up prenatal diagnosis by CMA was not performed for 44 cases. Moreover, among the 25 true positive cases, 10 were pathogenic, 3 were likely pathogenic, and 12 were of uncertain significance. Conclusion NIPT is not only suitable for screening T21, T18, T13, and SCA but also has potential significance for CNV detection. As combined with ultrasound, extended NIPT is effective for screening MMS. However, NIPT should not be recommended for whole-chromosome aneuploidy screening.

ObjectiveTo evaluate if the NT value of 2.5 mm ≤ NT < 3.0 mm is an appropriate indication for CMA tests among fetuses with isolated increased NT and NIPT is more suitable instead.MethodsA total of 442 fetuses with NT ≥ 2.5 mm were included, in which 241 fetuses underwent karyotype. CMA tests were then carried out when cytogenic analysis showed normal chromosomes and CNV status was compared between 2.5 mm ≤ NT < 3.0 mm and ≥3.0 mm subgroups. For the NIPT evaluation, 201 of 442 fetuses with smaller increased NT (2.5 mm ≤ NT < 3.0 mm) was examined by either NIPT or karyotype.ResultsOf the 241 fetuses with NT ≥ 2.5 mm, 47(19.50%) were identified by karyotype with chromosomal abnormalities. Among 194 cases with normal karyotype, CMA unraveled additional CNVs in 16(8.25%) cases, including 3(1.55%) pathogenic CNVs, 2(1.03%) likely pathogenic CNVs and 11(5.67%) VOUS. After the subgroup analysis, however, only one case (1.16%) of likely pathogenic was identified by CMA among 86 fetuses with NT between 2.5 mm and 3.0 mm, whereas the rest of 15 CNV cases were all presented in fetuses with NT ≥ 3.0 mm. For the NIPT evaluation, the detection rate of 201 fetuses with isolated increased NT between 2.5 and 3.0 mm was 3.98%, which was indifferent to karyotype with the rate of 5%. In comparison with fetuses with 2.5–3.0 mm combined with other risks, the detection rate of karyotype was 26.92%.ConclusionWhile no pathogenic CNVs were detected in fetuses, chromosomal aneuploidies and genomic imbalance were found to be the major type of abnormalities when NT was 2.5–3.0 mm. Therefore, our data suggested that CMA should not be recommended when fetuses with an NT value less than 3.0 mm. Instead, NIPT with similar rate of detection as karyotype was recommended for fetuses with isolated increased NT between 2.5 and 3.0 mm.

HighlightsDefect engineering for constructing Zn2+ reservoir to anchor anions.The quasi-solid electrolyte interphase as Zn2+ reservoir boosting charge and mass transfer for dendrite-free zinc battery.A Coulombic efficiency of 99.8% was achieved in Zn||Cu cell.The practical applications of zinc metal batteries are plagued by the dendritic propagation of its metal anodes due to the limited transfer rate of charge and mass at the electrode/electrolyte interphase. To enhance the reversibility of Zn metal, a quasi-solid interphase composed by defective metal–organic framework (MOF) nanoparticles (D-UiO-66) and two kinds of zinc salts electrolytes is fabricated on the Zn surface served as a zinc ions reservoir. Particularly, anions in the aqueous electrolytes could be spontaneously anchored onto the Lewis acidic sites in defective MOF channels. With the synergistic effect between the MOF channels and the anchored anions, Zn2+ transport is prompted significantly. Simultaneously, such quasi-solid interphase boost charge and mass transfer of Zn2+, leading to a high zinc transference number, good ionic conductivity, and high Zn2+ concentration near the anode, which mitigates Zn dendrite growth obviously. Encouragingly, unprecedented average coulombic efficiency of 99.8% is achieved in the Zn||Cu cell with the proposed quasi-solid interphase. The cycling performance of D-UiO-66@Zn||MnO2 (~ 92.9% capacity retention after 2000 cycles) and D-UiO-66@Zn||NH4V4O10 (~ 84.0% capacity retention after 800 cycles) prove the feasibility of the quasi-solid interphase.

High temperature is one of the most critical abiotic factors affecting rice growth and development, and the frequent occurrence of extremely high temperatures has severely constrained rice production in China. Therefore, it is crucial to investigate how to overcome the damage caused by heat stress on rice. This study used japonica rice lines, J565 and NJ9108, as plant material. The physiological and transcriptional mechanisms of rice crops under high-temperature stress and different sowing dates (i.e., early sowing on April 25, 2018 and late sowing on May 25, 2018) were studied in this research investigation. The research results indicated that elevated temperatures significantly inhibited carbon (C) and nitrogen (N) transport in leaves and stem sheaths, which is not conducive to grain filling, leading to reduced yield. The high-temperature tolerance of rice has resulted from intricate and complex biochemical processes that involve several gene coding and metabolic expressions. The result of transcriptomic analysis showed that there were 681 and 472 differential expression genes (DEGs) were engaged in two treatments (HJ565 VS LJ565 and HN9108 VS LN9108; HJ565 VS HN9108 and LN565 VS LN9108). The enrichment analysis of HJ565 VS LJ565 and HN9108 VS LN9108 showed that the top ten enrichment pathways were significantly enriched ( p  < 0.05); however, the top ten enrichment pathways enriched in HJ565 VS HN9108 and LN565 VS LN9108 were not significantly enriched ( p  > 0.05). This study confirmed that high temperature caused the up-regulated expression of heat shock factor-related genes ( HSF ) and mediated the up-regulated expression of downstream protein folding and heat response genes. The changing trend of these genes in NJ9108 was significantly greater than that in J565 under two sowing periods, indicating that NJ9108 was susceptible to high temperatures. It explains how the high-temperature tolerance capacity of J565 helped attain a higher yield than that of NJ9108 under heat stress. The findings of this study provided an important theoretical basis for in-depth research and understanding of the molecular mechanism and regulatory network of high-temperature tolerance and quality formation in rice.

Clinical evidence underpins informed healthcare decisions, yet integrating it into real-time practice remains challenging due to intensive workloads, complex procedures, and time constraints. This study presents Quicker, an LLM-powered system that automates evidence synthesis and generates clinical recommendations following standard guideline development workflows. Quicker delivers an end-to-end pipeline from clinical questions to recommendations and supports customized decision-making through integrated tools and interactive interfaces. To evaluate how closely Quicker can reproduce guideline development processes, we constructed Q2CRBench-3, a benchmark derived from guideline development records for three diseases. Experiments show that Quicker produces precise question decomposition, expert-aligned retrieval, and near-comprehensive screening. Quicker assistance improved the accuracy of extracted study data, and its recommendations were more comprehensive and coherent than clinician-written ones. In system-level testing, Quicker working with one participant reduced recommendation development to 20–40 min. Overall, the findings demonstrate Quicker’s potential to enhance the speed and reliability of evidence-based clinical decision-making.

The Luonan Basin is a key region of early human settlement in Central China with more than 300 discovered Paleolithic sites. Artifact layer 1 of the Liuwan site was dated to approximately 0.6 million years (Ma) based on correlation with the well-dated loess–paleosol sequence of the central Chinese Loess Plateau. This study reassessed the age of the Liuwan artifact layer via an absolute dating method, namely, 26 Al/ 10 Be burial dating. We determined the burial age of artifact layer 1, which was most likely at least 0.60 ± 0.12 Ma (1ơ), using three simple burial ages. The new burial age confirmed the previous estimated age and provided a considerably accurate age range. Therefore, we suggest the use of the 26 Al/ 10 Be burial dating method in thin loess-covered Paleolithic sites around the Qinling Mountain Range is helpful to understand the early human behavior.

In this study, late Holocene vegetation, climate and human impacts were investigated using multiproxy data-pollen percentages, pollen accumulation rates (PAR), humification and loss-on-ignition (LOI)—measured from peat sediments from Daiyun Mountain, southeast China. A stratigraphie chronology was established on the basis of four radiocarbon dates. The 4,350 year sequence of vegetation history and climate change exhibits three distinctive stages: (1) 4,350-1,000 cal BP, during which the vegetation was dominated by evergreen forests mainly composed of broad-leaf trees, indicating a warm and wet climate; (2) 1,000-550 cal BP, during which the climate was thought to be cool and dry, based on a decrease in pollen percentages and the PARs of trees, shrubs and wetland herbs, and an increase in the pollen percentage and PAR of dry land herbs, as well as high overall LOI values; and (3) 550 cal BP to modern times, during which higher pollen percentages of dry land and wetland herbs, along with low pollen percentage and PAR of trees and shrubs, as well as low absorbance and LOI values, suggest relatively cooler but wetter climate conditions. In addition, major climatic events, such as the warm period from AD 670-960, the Medieval Warm Period (AD 1050-1520) and the Little Ice Age (AD 1580-1850), could be identified within the peat sediments in this study, with climatic conditions at these times being characteristically warm and wet, warm and dry, and cold and wet, respectively. Pollen signals indicate significant human impact since 1,000 cal BP, which may be linked to the development of the local porcelain industry and a rapid increase in the population in the study region.

Clinical evidence underpins informed healthcare decisions, yet integrating it into real-time practice remains challenging due to intensive workloads, complex procedures, and time constraints. This study presents Quicker, an LLM-powered system that automates evidence synthesis and generates clinical recommendations following standard guideline development workflows. Quicker delivers an end-to-end pipeline from clinical questions to recommendations and supports customized decision-making through integrated tools and interactive interfaces. To evaluate how closely Quicker can reproduce guideline development processes, we constructed Q2CRBench-3, a benchmark derived from guideline development records for three diseases. Experiments show that Quicker produces precise question decomposition, expert-aligned retrieval, and near-comprehensive screening. Quicker assistance improved the accuracy of extracted study data, and its recommendations were more comprehensive and coherent than clinician-written ones. In system-level testing, Quicker working with one participant reduced recommendation development to 20-40 min. Overall, the findings demonstrate Quicker's potential to enhance the speed and reliability of evidence-based clinical decision-making.

本文首先發現價格衝擊對於外匯波動度的影響存在不對稱與反轉的現象。當價格變動幅度很大時，負向衝擊比起正向衝擊對波動度的影響要較大；但是當價格變動幅度小時，影響程度會出現反轉(Reversal)，即正向衝擊比負向衝擊對波動度的影響較大，其次，本文定義“訊息衝擊”（以別於以往的“價格”衝擊）為由於選擇權交易活動的變動（如交易量）所造成的衝擊。使用四種外匯（英鎊、歐元、日圓及瑞士法郎）為實證對象，實證結果發現此訊息衝擊亦造成波動度不對稱效果及反轉的現象，與前述的價格衝擊效果是分別獨立存在的。此結果支持了Back(1993)的理論模型選擇權市場並非多餘的，其交易活動提供了更廣泛且有別於標的現貨市場的訊息來源。

本文的目的在於將股價跳躍的特性帶入Schwartz與Moon(2000)的網路企業評價模型中，以滿足網路公司其產業性質的特殊性，以及金融資產存在的價格不連續性問題。使用雅虎與亞馬遜兩家網路公司的資料，我們利用二種模擬誤差指標，Root-mean-square simulation error與Theil inequality coefficient，來探討含跳躍過程的模型能否較原來模型更正確的模擬股價變動的過程。我們發現含跳躍過程的模型的模擬誤差確實較原來模型來得小，證實跳躍過程必須使用至評價模型中，方能正確的反映網路企業的價值。