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Newborn screening with targeted sequencing:a multicenter investigation and a pilot clinical study in China 被引量:13
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作者 Chanjuan Hao Ruolan Guo +23 位作者 Xuyun Hu Zhan Qi Qi Guo Xuanshi Liu Yuanhu Liu Yanhua Sun Xiaofen Zhang Feng jin Xiujie Wu Ren Cai Dingyuan Zeng Xijiang Hu Xiaohua Wang xiaoping ji Wenjie Li Quansheng Xing Lanfang Mu Xiulian jiang Xue Yang Weimin Yang Yan Zhang Qianli Yin Xin Ni Wei Li 《Journal of Genetics and Genomics》 SCIE CAS CSCD 2022年第1期13-19,共7页
Different newborn screening(NBS) programs have been practiced in many countries since the 1960 s. It is of considerable interest whether next-generation sequencing is applicable in NBS. We have developed a panel of 46... Different newborn screening(NBS) programs have been practiced in many countries since the 1960 s. It is of considerable interest whether next-generation sequencing is applicable in NBS. We have developed a panel of 465 causative genes for 596 early-onset, relatively high incidence, and potentially actionable severe inherited diseases in our Newborn Screening with Targeted Sequencing(NESTS) program to screen 11,484 babies in 8 Women and Children’s hospitals nationwide in China retrospectively. The positive rate from preliminary screening of NESTS was 7.85%(902/11,484). With 45.89%(414/902) follow-up of preliminary positive cases, the overall clinically confirmative diagnosis rate of monogenic disorders was 12.07%(50/414), estimating an average of 0.95%(7.85% × 12.07%) clinical diagnosis rate, suggesting that monogenic disorders account for a considerable proportion of birth defects. The disease/gene spectrum varied in different regions of China. NESTS was implemented in a hospital by screening 3923 newborns to evaluate its clinical application. The turn-around time of a primary report, including the sequencing period of < 7 days, was within 11 days by our automatic interpretation pipeline. Our results suggest that NESTS is feasible and cost-effective as a first-tier NBS program, which will change the status of current clinical practice of NBS in China. 展开更多
关键词 Newborn screening Next-generation sequencing Targeted sequencing Monogenic disorders Clinical practice
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Materials,preparation,performances and mechanism of polyurethane modified asphalt and its mixture:A systematic review 被引量:11
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作者 Chaohui Wang Shuai Huang +2 位作者 Qian Chen xiaoping ji Kaixi Duan 《Journal of Road Engineering》 2023年第1期16-34,共19页
With the rapid development of asphalt pavement technology,it has attracted considerable attention to improving the durability of asphalt pavement.An effective action is to use modified asphalt with high performance an... With the rapid development of asphalt pavement technology,it has attracted considerable attention to improving the durability of asphalt pavement.An effective action is to use modified asphalt with high performance and durability.Polyurethane(PU)has been used in asphalt pavement engineering to enhance the durability and service life of asphalt pavement because of its excellent high-temperature performance,toughness,wear resistance,aging resistance and oil resistance.However,PU modified asphalt technology is still in the exploratory stage.The preparation,modification mechanism and working performances of PU modified asphalt need to be further clarified.Therefore,this paper summarized the research progress of PU modified asphalt and its mixture.The composition of PU modified asphalt was introduced.The addition methods of PU materials and preparation process parameters of the PU modified asphalt were determined.The modification mechanism of PU on asphalt was discussed.The effects of polyurethane on asphalt were analyzed and the road performances of its mixture were evaluated.Finally,the development tendency towards PU modified asphalt and its mixture were forecasted. 展开更多
关键词 Road materials POLYURETHANE Modified asphalt Preparation process Modification mechanism
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吸入糖皮质激素联合长效β2-受体激动剂对慢性阻塞性肺疾病的疗效 被引量:4
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作者 刘炜 纪小平 潘泽斌 《临床检验杂志(电子版)》 2016年第4期217-219,共3页
目的分析应用长效β2-受体激动剂与糖皮质激素联合疗法在慢性阻塞性肺疾病患者治疗中的作用。方法随机选择2015年5月-2016年5月于我院接受治疗的中重度慢性阻塞性肺疾病患者100例,按照随机数字表法分为单一药物组与联合药物组,每组50例... 目的分析应用长效β2-受体激动剂与糖皮质激素联合疗法在慢性阻塞性肺疾病患者治疗中的作用。方法随机选择2015年5月-2016年5月于我院接受治疗的中重度慢性阻塞性肺疾病患者100例,按照随机数字表法分为单一药物组与联合药物组,每组50例。其中单一药物组患者采用吸入药物福莫特罗的疗法,而联合药物组患者应用吸入药物福莫特罗联合布地奈德的疗法。分析两组患者在治疗前、治疗后1个月与3个月时的肺功能状况。结果两组患者在治疗前的肺功能指标没有统计学差异(P>0.05);两组患者在治疗后1个月与3个月时的肺功能状况比治疗前显著改善(P<0.05),联合药物组患者在治疗后1个月与3个月时的肺功能状况比单一药物组显著改善,差异有统计学意义(P<0.05)。结论应用长效β2-受体激动剂与糖皮质激素联合疗法在慢性阻塞性肺疾病患者治疗中的作用优异,可有效增强机体的肺功能状况。 展开更多
关键词 慢性阻塞性肺疾病 Β2受体激动剂 布地奈德 肺功能 糖皮质激素
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Mechanical and environmental properties of geopolymer-stabilized domestic waste incineration slag in an asphalt pavement base 被引量:1
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作者 xiaoping ji Bo Chen +4 位作者 Xinze Dong Honglei Lu Xueyuan Zhang Shupeng He Tongda Wu 《Journal of Road Engineering》 2023年第2期218-228,共11页
Domestic waste incineration slag(WIS)includes fly ash and slag.Fly ash is classified as hazardous waste because it contains heavy metals.Most of slag are directly stacked or landfilled due to problems such as large ou... Domestic waste incineration slag(WIS)includes fly ash and slag.Fly ash is classified as hazardous waste because it contains heavy metals.Most of slag are directly stacked or landfilled due to problems such as large output and low utilization rate.Harmless treatment is imminent.If WIS is used effectively in the road engineering,which can realize the high-quality and high-efficiency recycling of WIS,and it is of great significance to save resources and protect the environment.This study applies a geopolymer prepared from WIS fly ash as a stabilizing agent in WIS blending macadam for use as a pavement base mixture,and reports the mechanical properties(unconfined compressive strength,splitting strength,and resilience modulus)of the geopolymer-stabilized WIS blending macadam(GeoWIS).The leaching concentrations of harmful heavy metals of GeoWIS soaked in water were also investigated.Finally,the strength formation and heavy metal stability mechanisms were explored.The unconfined compressive strength,splitting strength,and compressive resilient modulus of GeoWIS all increased with increasing geopolymer content and decreasing WIS content.The strength of GeoWIS was derived from its geopolymerization and hydration products(C-S-H gel,N-A-S-H gel,and AFt).When the geopolymer content reached 12%–14%,the GeoWIS without natural macadam met the strength criterion of the asphalt pavement base.Through physical adsorption and chemical bonding,the geopolymer significantly reduced the leaching of harmful heavy metals.In GeoWIS with 50%WIS and stabilized with 10%geopolymer,the Cr,Ni,Cd,and Pb concentrations met the grade III groundwater standard.Concentrations of heavy metals leached from GeoWIS are low and exert little impact on environment. 展开更多
关键词 Domestic waste incinerator slag Fly ash Geopolymer-stabilized macadam Heavy metal leaching concentration
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Using piezoelectric technology to harvest energy from pavement:A review 被引量:2
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作者 Keliang Mou xiaoping ji +4 位作者 jie Liu Haoyu Zhou Haochen Tian Xiaojuan Li Honghui Liu 《Journal of Traffic and Transportation Engineering(English Edition)》 2025年第1期68-86,共19页
A key point in building a contemporary energy system is the search for sustainable and green energy.Many green energy sources exist in the road or pavement domain,such as solar,thermal,wind,and mechanical energy,etc.U... A key point in building a contemporary energy system is the search for sustainable and green energy.Many green energy sources exist in the road or pavement domain,such as solar,thermal,wind,and mechanical energy,etc.Under the repeated vehicle loads,stresses and strains are generated in the pavement,which can generate substantial mechanical energy.In recent two decades,there has been a growing scholarly preference for utilizing the piezoelectric effect to convert mechanical energy from pavement into electricity to supply low-power transportation facilities,pavement sensors,etc.This paper provides an in-depth review of state-of-the-art advances in road piezoelectric energy harvesters.The basic principle of piezoelectric energy harvesting and common piezoelectric materials were briefly introduced.The piezoelectric energy harvesters suitable for roads are thoroughly reviewed from five perspectives:structure,finite element analyses,protective packaging,management circuit,and application.Finally,the challenges faced by piezoelectric energy harvesters for pavements were summarized,and the potential research directions were also proposed.This review serves as a valuable reference for advancing road piezoelectric harvesting technology development. 展开更多
关键词 PAVEMENT Mechanical energy Piezoelectric effect Piezoelectric harvesting technology
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合并低血压的HFrEF患者中沙库巴曲缬沙坦的滴定策略 被引量:1
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作者 吴安虎 林宗伟 +1 位作者 季晓平 吕慧霞 《中华心血管病杂志》 CAS CSCD 北大核心 2023年第10期1098-1103,共6页
沙库巴曲缬沙坦作为一种新型的血管紧张素受体脑啡肽酶抑制剂, 已经成为射血分数降低的心力衰竭(HFrEF)患者的一线用药, 同时, 沙库巴曲缬沙坦也具有降压作用, 所以, 目前对于合并低血压的HFrEF(HFrEF-LSBP)患者能否从沙库巴曲缬沙坦中... 沙库巴曲缬沙坦作为一种新型的血管紧张素受体脑啡肽酶抑制剂, 已经成为射血分数降低的心力衰竭(HFrEF)患者的一线用药, 同时, 沙库巴曲缬沙坦也具有降压作用, 所以, 目前对于合并低血压的HFrEF(HFrEF-LSBP)患者能否从沙库巴曲缬沙坦中获益存在争议。该文对低血压对沙库巴曲缬沙坦滴定的影响进行综述, 并提出了HFrEF-LSBP患者中滴定沙库巴曲缬沙坦的策略, 为该类患者的治疗提供参考。 展开更多
关键词 低血压 射血分数降低的心力衰竭 沙库巴曲缬沙坦
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