247 research outputs found

    A rare case of uniparental isodisomy of chromosome 7 without phenotypic anomalies

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    Uniparental disomy (UPD) is a well-known epigenomic anomaly with both copies of a homologous pair of chromosomes (or part thereof) inherited from the same parent [1]. Unlike numerical or structural chromosomal aberrations, UPD has no effects on chromosome number or structure, thereby escaping cytogenetic detection [1, 2]. However, UPD detection could be performed by the microsatellite analysis or SNP-based chromosomal microarray analysis (CMA) method. UPD may cause diseases in humans by disrupting normal allelic expression of genes undergoing genomic imprinting, homozygosity in case of autosomal recessive traits, or mosaic aneuploidy [2]. Here we present the first case of parental UPD for chromosome 7 with a normal phenotype

    Film-through large perovskite grains formation via a combination of sequential thermal and solvent treatment

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    Organic–inorganic halide perovskites have recently attracted strong research interest for fabrication of high-performance, lowcost photovoltaic devices. Recently, we reported a highly reproducible procedure to fabricate high-performance organic–inorganic halide perovskite solar cells. This procedure, based on a onestep, solvent-induced, fast deposition-crystallization method, involves the use of sec-butyl alcohol as a new solvent to induce the CH3NH3PbI3 fast crystallization deposition. In the present study, we propose a reproducible fabrication method to prepare both flat and large-grain perovskite film by adding a pre-annealing step to strengthen the perovskite nucleation, aiming to facilitate the excess CH3NH3I and solvent removal in the sec-butyl alcohol soaking process, in which all films with thickness between 420 nm and 1µm performed uniformly. The best performing planar device obtained with this procedure had an efficiency of 17.2% under AM 1.5G illumination and an average power conversion efficiency of 16.2 ± 0.5%. We also analyzed the efficiency of halide perovskite planar solar cells as a function of the perovskite film thickness; the efficiency dropped only slightly to 15.7% when the perovskite film thickness was increased to 1µm

    Human Papillomavirus (HPV) Vaccine Uptake and the Willingness to Receive the HPV Vaccination among Female College Students in China: A Multicenter Study

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    Background: This study aimed to determine human papillomavirus (HPV) vaccine uptake and willingness to receive HPV vaccination among female college students, in China, and its associated factors. Methods: An online cross-sectional survey of female college students across the eastern, central, and western regions of China was undertaken between April and September 2019. Partial least squares structural equation modeling (PLS-SEM) was used to examine factors associated with the HPV vaccine uptake and willingness to receive the HPV vaccine. Results: Among the total 4220 students who participated in this study, 11.0% reported having been vaccinated against HPV. There are direct effects of indicators of higher socioeconomic status, older age (β = 0.084 and p = 0.006), and geographical region (residing in Eastern China, β = 0.033, and p = 0.024) on HPV vaccine uptake. Higher knowledge (β = 0.062 and p < 0.000) and perceived susceptibility (β = 0.043 and p = 0.002) were also predictors of HPV vaccine uptake. Of those who had not received the HPV vaccine, 53.5% expressed a willingness to do so. Likewise, social economic status indicators were associated with the willingness to receive the HPV vaccine. Total knowledge score (β = 0.138 and p < 0.001), both perceived susceptibility (β = 0.092 and p < 0.001) and perceived benefit (β = 0.088 and p < 0.001), and sexual experience (β = 0.041 and p = 0.007) had a positive and significant direct effect on the willingness to receive the HPV vaccine, while perceived barriers (β = −0.071 and p < 0.001) had a negative effect on the willingness to receive the HPV vaccine. Conclusions: Geographical region and socioeconomic disparities in the HPV vaccination uptake rate and willingness to receive the HPV vaccine provide valuable information for public health planning that aims to improve vaccination rates in underserved areas in China. The influence of knowledge and perceptions of HPV vaccination suggests the importance of communication for HPV immunization

    Integrative analysis and identification of key elements and pathways regulated by Traditional Chinese Medicine (Yiqi Sanjie formula) in colorectal cancer

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    Introduction: The clinical efficacy of Yiqi Sanjie (YQSJ) formula in the treatment of stage III colorectal cancer (CRC) has been demonstrated. However, the underlying antitumor mechanisms remain poorly understood.Materials and methods: The aim of the present study was to comprehensively characterize the molecular and microbiota changes in colon tissues and fecal samples from CRC mice and in CRC cell lines treated with YQSJ or its main active component, peiminine. Integrative tandem mass tag-based proteomics and ultra-performance liquid chromatography coupled with time-of-flight tandem mass spectrometry metabolomics were used to analyze azoxymethane/dextran sulfate sodium-induced CRC mouse colon tissues.Results: The results showed that 0.8% (57/7568) of all detected tissue proteins and 3.2% (37/1141) of all detected tissue metabolites were significantly changed by YQSJ treatment, with enrichment in ten and six pathways associated with colon proteins and metabolites, respectively. The enriched pathways were related to inflammation, sphingolipid metabolism, and cholesterol metabolism. Metabolomics analysis of fecal samples from YQSJ-treated mice identified 121 altered fecal metabolites and seven enriched pathways including protein digestion and absorption pathway. 16S rRNA sequencing analysis of fecal samples indicated that YQSJ restored the CRC mouse microbiota structure by increasing the levels of beneficial bacteria such as Ruminococcus_1 and Prevotellaceae_UCG_001. In HCT-116 cells treated with peiminine, data-independent acquisition-based proteomics analysis showed that 1073 of the 7152 identified proteins were significantly altered and involved in 33 pathways including DNA damage repair, ferroptosis, and TGF-β signaling.Conclusion: The present study identified key regulatory elements (proteins/metabolites/bacteria) and pathways involved in the antitumor mechanisms of YQSJ, suggesting new potential therapeutic targets in CRC
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