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| 1 | Clinical Application of Chromosome Microarray Analysis in Han Chinese Children with Neurodevelopmental Disorders显示文摘Chromosome microarray analysis(CMA) is a cost-effective molecular cytogenetic technique that has been used as a first-line diagnostic test in neurodevelopmental disorders in the USA since 2011. The impact of CMA results on clinical practice in China is not yet well studied, so we aimed to better evaluate this phenomenon.We analyzed the CMA results from 434 patients in our clinic, and characterized their molecular diagnoses, clinical features, and follow-up clinical actions based on these results. The overall diagnostic yield for our patients was 13.6%(59 out of 434). This gave a detection rate of 14.7%for developmental delay/intellectual disability(DD/ID,38/259) and 12% for autism spectrum disorders(ASDs,21/175). Thirty-three recurrent(n≥2) variants were found, distributed at six chromosomal loci involving known chromosome syndromes(such as DiGeorge, Williams Beuren, and Angelman/Prader-Willi syndromes).The spectrum of positive copy number variants in our study was comparable to that reported in Caucasian populations, but with specific characteristics. Parental origin tests indicated an effect involving a significant maternal transmission bias to sons. The majority of patients with positive results(94.9%) had benefits, allowing earlier diagnosis(36/59), prioritized full clinical management(28/59), medication changes(7/59), a changed prognosis(30/59), and prenatal genetic counseling(15/59). Our results provide information on de novo mutations in Chinese children with DD/ID and/or ASDs. Our data showed that microarray testing provides immediate clinical utility for patients. It is expected that the personalized medical care of children with developmental disabilities will lead to improved outcomes in long-term developmental potential.We advocate using the diagnostic yield of clinically actionable results to evaluate CMA as it provides information of both clinical validity and clinical utility. | Mingyu Xu Yiting Ji Ting Zhang Xiaodong Jiang Yun Fan Juan Geng Fei Li | 2018 | Neuroscience Bulletin2018，34，6： | 8 |
| 2 | Hierarchical Manganese Oxide/Carbon Nanocomposites for Supercapacitor Electrodes显示文摘有装载的层次毛孔结构和可控制的 MnO2 的 MnO2/carbon nanocomposites 用一个自我限制的生长方法被综合了。这被 KMnO4 的氧化还原作用反应与包含层次毛孔的牺牲的碳底层完成。唯一的毛孔结构允许 nanocomposites 的合成,悦耳的 MnO2 装载直到 83 wt.% 。nanocomposites 的特定的电容增加了, MnO2 装载;在另一方面,电气化学的阻抗光谱学测量的传导性与增加装载的 MnO2 减少了。装载的 MnO2 的优化与高特定的电容和优秀的率能力导致了 nanocomposites。这个工作提供将为应用的一个大变化便于高效的 supercapacitor 材料的设计和制造的重要基本理解。 | Yiting Peng Zheng Chen Jing Wen Qiangfeng Xiao Ding Weng Shiyu He Hongbin Geng Yunfeng Lu | 2011 | Nano Research2011，4，2： | 8 |
| 3 | N-acetyltransferase 10 promotes colon cancer progression by inhibiting ferroptosis through N4-acetylation and stabilization of ferroptosis suppressor protein 1 (FSP1) mRNA显示文摘Background:N-acetyltransferase 10(NAT10)is the only enzyme known tomediate the N4-acetylcytidine(ac4C)modification of mRNA and is crucial formRNA stability and translation efficiency.However,its role in cancer development and prognosis has not yet been explored.This study aimed to examine the possible role of NAT10 in colon cancer.Methods:The expression levels ofNAT10were evaluated by immunohistochemical analyses with a colon cancer tissue microarray,and its prognostic value in patients was further analyzed.Quantitative real-time polymerase chain reaction(qRT-PCR)and Western blotting were performed to analyze NAT10 expression in harvested colon cancer tissues and cell lines.Stable NAT10-knockdown and NAT10-overexpressing colon cancer cell lines were constructed using lentivirus.The biological functions of NAT10 in colon cancer cell lines were analyzed in vitro by Cell Counting Kit-8(CCK-8),wound healing,Transwell,cell cycle,and ferroptosis assays.Xenograft models were used to analyze the effect of NAT10 on the tumorigenesis and metastasis of colon cancer cells in vivo.Dot blotting,acetylated RNA immunoprecipitation-qPCR,and RNA stability analyses were performed to explore the mechanism by which NAT10 functions in colon cancer progression.Results:NAT10 was upregulated in colon cancer tissues and various colon cancer cell lines.This increased NAT10 expression was associated with shorter patient survival.Knockdown of NAT10 in two colon cancer cell lines(HT-29 and LoVo)impaired the proliferation,migration,invasion,tumor formation and metastasis of these cells,whereas overexpression of NAT10 promoted these abilities.Further analysis revealed that NAT10 exerted a strong effect on the mRNA stability and expression of ferroptosis suppressor protein 1(FSP1)in HT-29 and LoVo cells.In these cells,FSP1 mRNA was found to be modified by ac4C acetylation,and this epigenetic modification was associated with the inhibition of ferroptosis.Conclusions:Our study revealed that NAT10 plays a critical role in colon cancer development by affecting FSP1 mRNA stability and ferroptosis,suggesting that NAT10 could be a novel prognostic and therapeutic target in colon cancer. | Xiao Zheng Qi Wang You Zhou Dachuan Zhang Yiting Geng Wenwei Hu Changping Wu Yufang Shi Jingting Jiang | 2022 | Cancer Communications2022，42，12： | 3 |
| 4 | Efficacy of gefitinib as a first-line single agent treatment in patients with advanced non-small cell lung cancer显示文摘Objective: To assess the efficacy and toxicity of gefitinib as a single agent treatment in Chinese patients with advanced non-small cell lung cancer (NSCLC). Methods: Forty-five patients with advanced NSCLC were treated with gefitinib at 250 mg daily until the disease progressed or the patient could not tolerate the toxicity. Results: None of the patients achieved a complete response (CR), while 15 patients achieved a partial remission (PR) and 17 experienced a stable disease (SD). Thirteen patients continued to have a progressive disease (PD). The response rate and the disease control rate were 33.3% and 71.1%, respectively. The symptom remission rate was 72.5%, and the median remission time was 8 days. The median survival time was 15.3 months. The median progression-free survival time was 6.0 months. The most common toxicities included rash (53.3%) and diarrhea (33.3%). Dehydration and pruritus of the skin developed in 26.7% and 22.2% of the patients, respectively. Hepatic toxicity occurred in 6.7% of patients and oral ulceration occurred in 4.4% of patients. Conclusion: Single agent treatment with gefitinib is effective against advanced NSCLC, and is well tolerated in Chinese patients. | Yongmei Yin Yiting Geng Xiaodong Li Xiaoli Hu Xiaofeng Chen Wei Li Yongqian Shu | 2009 | Journal of Nanjing Medical University2009，23，6： | 1 |
| 5 | DMD-based hyperspectra I microscopy with flexible multiline parallel scanning显示文摘As one of the most common hyperspearal microscopy(HSM)techniques,line-scanning HSM is currently utilized in many fields.However,its scanning efficiency is still considered to be inadequate since many biological and chemical processes occur too rapidly to be captured.Accordingly,in this work,a digital micromirror device(DMD)based on microelectromechanical systems(MEMS)is utilized to demonstrate a flexible multiline scanning HSM system.To the best of our knowledge,this is the first line-scanning HSM system in which the number of scanning lines N can be tuned by simply changing the DMD's parallel scanning units according to diverse applications.This brilliant strategy of effortless adjustability relies only on on-chip scanning methods and totally exploits the benefits of parallelization,aiming to achieve nearly an A/-time improvement in the detection efficiency and an N-time decrease in the scanning time and data volume compared with the single-line method under the same operating conditions.To validate this,we selected a few samples of different spectral wavebands to perform reflection imaging,transmission imaging,and fluorescence imaging with varying numbers of scanning lines.The results show the great potential of our DMD-based HSM system for the rapid development of cellular biology,material analysis,and so on.In addition,its on-chip scanning process eliminates the inherent microscopic architecture,making the whole system compact,lightweight,portable,and not subject to site constraints. | Xue Dong Geng Tong Xuankun Song Xingchen Xiao Yiting Yu | 2021 | Microsystems & Nanoengineering2021，7，5： | 1 |
| 6 | The effect of baduanjin exercise in rehabilitation for functional ankle instability:A study protocol for a randomized controlled pilot trial显示文摘Introduction:Patients with functional ankle instability(FAI)have problems with joint control,balance,gait,and postural symmetry.Baduanjin is a type of traditional Chinese exercise that has been shown to be effective in treating many diseases and symptoms.However,to date,the effect of Baduanjin in patients with FAI has not been proved.This pilot trial is an assessor-blinded randomized controlled trial,and its objective is to study the efficacy and safety of Baduanjin on the rehabilitation of patients with FAI.Methods:Seventy-two participants,who are eligible according to specified inclusion and exclusion criteria,will be randomized(in a 1:1 ratio),using a random number table,into two groups:a Baduanjin group and a conventional treatment group.The Baduanjin group will be subjected to the Baduanjin exercise in addition to the conventional treatment therapy.Participants’exercise programs will be implemented for 4 weeks(5 days a week).All participants will be assessed at baseline,and after two and 4 weeks of treatment.The surface electromyography results of the bilateral erector spinae,tibialis anterior,and peroneus longus will be the primary outcomes,while the balance function under different conditions and the level of FAI in daily life measured using the Cumberland Ankle Instability Tool will be the secondary outcomes.Ethics and Dissemination:The trial has been approved by the Research Ethical Committee of Dongzhimen Hospital,the First Affiliated Hospital of Beijing University of Chinese Medicine(no.DZMEC-KY-2019-18),and it will follow the principles of the Consolidated Standards of Reporting Trials statements as well as the Declaration of Helsinki.The findings of this study will be submitted for publication in peer-reviewed journals.The results will also be disseminated to the participants via phone calls or e-mail. | Li ZHOU Juanjuan AI Qingwen GENG Kuangshi LI Yiting SUN Ruyu YAN Diyang LYU Zongheng LI | 2021 | Journal of Integrative Nursing2021，3，2： | 0 |
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