VPS13A基因双位点纯合突变致舞蹈病-棘红细胞增多症1例并文献复习

舞蹈病-棘红细胞增多症(chorea-acanthocytosis,ChAc)是一种罕见的常染色体隐性遗传病,其临床特征较为复杂,可累及运动、神经、精神及内分泌等多个系统,常伴有头颈部不自主运动、进行性舞蹈样运动障碍、认知能力下降等临床表现,极易与麦克劳德综合征、类亨廷顿病2型、泛酸激酶相关的神经退行性等疾病相混淆[1];液泡蛋白分类同源物13A(vacuolar protein sorting homolog 13A,VPS13A)基因编码蛋白chorein对于维持细胞膜正常结构及神经元细胞功能具有重要作用,其突变与CHAc发病相关。现将南昌大学第一附属医院诊治的1例VPS13A基因双位点纯合突变致ChAc患者报告如下。

以肝衰竭为首发症状的慢性粒细胞白血病伴海蓝组织细胞增多症1例报告

海蓝组织细胞增多症(sea blue histiocytosis,SBH)是由于机体脂质代谢紊乱而导致的组织细胞内神经鞘磷脂和脑磷脂过度堆积的一种罕见的代谢性疾病,其发病机制不清,目前临床分为原发性SBH和继发性SBH,其中原发性SBH十分罕见,临床以继发性SBH为主[1],血液性疾病及脂质代谢紊乱相关性疾病是继发SBH的主要原因[2],同时增殖的海蓝组织细胞也可浸润机体各脏器引起其功能异常,促进疾病发展。

地笼口充气式隔热防水密闭装置的研发及应用

仓房内外温差逐步提高,经过多方面测试仓内流失冷气多数是通过地笼口仓墙外凸出部分的热传导,及外墙地笼口盖年久老化密封不严导致,同时也存在汛期防水效果下降的安全隐患。研发了地笼口充气式隔热防水密闭装置,该装置具有密闭保温功能,在确保内环流系统正常运行的前提下,能有效减少地笼口仓墙外沿凸出部分的热传导,对地笼盖年久老化密封不严所导致的冷核心流失效果明显;具备防水功能,进一步加强了地笼口防汛效果,确保储粮安全。

浅谈《哈利·波特与魔法石》电影字幕翻译

字幕翻译与观众的观影效果密切相关。为了将观众带入更好的语意环境,给语言学习者一个更好的平台,翻译字幕时既要保证翻译的准确性,又要考虑到文化之间的差异性。文章采取例证法,从翻译策略的角度对腾讯字幕组的翻译进行辩证分析。

鄂尔多斯盆地长7段页岩和泥岩生烃特征及其地质意义——以延安地区为例

以鄂尔多斯盆地长7段泥岩和页岩为例,基于基本地球化学特征,开展封闭体系黄金管热模拟实验,分析泥岩和页岩生烃产率特征及黄铁矿对有机质生烃作用的影响。结果表明:在模拟温度为400℃之前,页岩气态烃产率高于泥岩的,最高相差43.06 mL/g,模拟温度继续升高后,泥岩气态烃产率超过页岩的;泥岩和页岩在350℃达到产油高峰,页岩总产油率比泥岩的高53.25 mg/g;黄铁矿可以显著提高页岩的C_(1)-C_(4)产率,并促进C_(5)的大量裂解,且黄铁矿可促进总油产率的增加,在产油高峰时,最大可增加54.17 mg/g。页岩生烃能力强,黄铁矿对页岩油气的生成具有一定促进作用;在采用原位加热方法开采页岩油气时,高黄铁矿质量分数的富有机质页岩层段是鄂尔多斯盆地延安地区长7段的首选目标。该结果对页岩油气勘探开发选区选层具有指导意义。

装仓抛粮机一体移动式挡粮护轮板的研发及应用试验

平房仓内的装仓抛粮机需将粮食抛撒至堆粮线高度,由于粮食的流散特性,当堆粮高度提升时流散面积随之增大,将会导致装仓抛粮机轮胎掩埋.一体移动式挡粮护轮板,安装方便,可重复使用,有效阻隔储粮流散对装仓抛粮机轮胎的掩埋,规避了机械拖动环节,减少装仓抛粮机周期移动频率,减轻现场人员劳动量,进一步加强设施、设备的使用安全,综合提升入仓效率.

害虫诱捕器光影成像系统的研发及应用试验

在当前储粮害虫防治工作中,作为监控储粮害虫有效工具的探管状诱捕器虽然效果良好但拆卸繁琐,且害虫体躯微小易产生视觉疲劳,需耗费保管员大量精力与体力。针对以上问题,结合现在国内平房仓为隔热、控温采用的仓内吊顶技术,将吊顶作为投影屏幕,虫害经照明放大后成像于仓内吊顶,无需拆卸便可实施观测。该光影检测方式不仅可以减少检查耗时,还能降低劳动强度,缓解视觉疲劳,在缩短检测周期和提升虫害监控效率方面具有一定的研究意义和推广价值。

子洲地区山_(2)^(3)段致密砂岩储层特征与气水分布的相关性研究

以鄂尔多斯盆地子洲地区山_(2)^(3)段致密砂岩为例,在分析储层特征和气水分布特征的基础上,探索二者的相关性,揭示强充注源内成藏致密储层气水分布的主要控制因素。研究表明,研究区山_(2)^(3)段砂岩以低孔低渗的致密砂岩为主,山_(2)^(3)段储层孔隙度主要分布范围为4%~8%,渗透率主要分布范围为(0.1~0.5)×10^(-3)μm ^(2)。子州地区山_(2)^(3)段储层部分样品渗透率为(1~100)×10^(-3)μm ^(2),是典型的孔隙裂缝双重介质。研究区储层非均质性强,微观孔隙结构特征主要以Ⅱ类和Ⅲ类细喉道类型为主。子州气田山_(2)^(3)段砂岩天然气充注强度高,含气饱和度主要分布在60%~80%。通过压力系统分析可知,气田由多个岩性圈闭构成,气层呈不连续分布状态,现今气藏类型以典型的低渗透岩性气藏为主。子州气田山_(2)^(3)段储层地层水主要分布在气田西南和南部地区,以局部边底水和透镜体水类型为主,水体不连续,没有统一的气水界面。地层水在构造低部位分布主要是由于成藏早期储层砂岩没有致密化,气水分布受构造控制,子州气田在早成藏期具有边致密边成藏的特征。

新型多功能害虫选筛的研发及应用试验

当储粮环境温度较低时,储粮害虫生理上将会出现“冷麻痹”状态,伴随虫尸及有机、无机杂质等混合聚于选筛下层,活虫辨识难度较大。仓内密闭环境中,由于光源条件有限,借助照明工具进行直射检查时,选筛金属镜面反光较为刺眼。新型多功能害虫选筛,所应用的照明系统与恒定加热系统,均可单人操作,无需辅助照明,有效缩短查仓综合耗时。背景灯光柔和适中,有效降低选筛检测视觉疲劳值。在低温仓与准低温仓储粮环境中,恒定加热系统应用效果显著,具有一定的研究意义和推广价值。

储粮害虫远程监视检测系统应用试验

在密闭熏蒸的环境中,无法实现安全、有效地对阶段性杀虫效果实时监测,熏蒸杀虫效果评估缺少影像资料相关数据支撑。针对这一问题,开发了“粮食杀虫过程监控与杀虫效果评估系统”,该系统可于高温、高湿、机械通风、熏蒸密闭等储粮环境中正常运行,性能稳定,视频清晰,信号传输稳定。在有效降低保管员劳动强度的同时,还能满足日常及熏蒸期间虫害实时动态的监测要求。对熏蒸环境中的不同阶段磷化氢浓度,与虫害活动实时动态、击倒的视频影像信息及相关数据进行分析,为熏蒸杀虫实时效果与杀虫效果评估提供了真实有效的数据支撑。

智能化粮库防汛水位预警系统的研发和应用

采用水位预警系统来提高粮库防汛水位预警准确度,合理安排值班,降低值班人员的劳动量,减轻疲劳值,提高工作效率,为抢险准确预警赢取宝贵时间。

新型在线预警扦样系统的研发及应用试验

结合在线水分监测系统与自动扦样系统,研发了新型传感器扦样系统,为入仓高水分重点把控区域提供参考数据,有效加强入仓安全水分值的把控力度,确保储粮安全。

Amplitude analysis of the decays D^(0)→π^(+)π^(−)π^(+)π^(−)and D^(0)→π^(+)π^(−)π^(0)π^(0)

Using e^(+)e^(−)annihilation data corresponding to an integrated luminosity of 2.93 fb^(−1)taken at the center-of-mass energy√s=3.773 GeV with the BESIII detector,a joint amplitude analysis is performed on the decays D^(0)→π^(+)π^(−)π^(+)π^(−)and D^(0)→π^(+)π^(−)π^(0)π^(0)(non-η).The fit fractions of individual components are obtained,and large interferences among the dominant components of the decays D^(0)→a_(1)(1260)π,D^(0)→π(1300)π,D^(0)→ρ(770)ρ(770),and D^(0)→2(ππ)_(S)are observed in both channels.With the obtained amplitude model,the CP-even fractions of D^(0)→π^(+)π^(−)π^(+)π^(−)and D^(0)→π^(+)π^(−)π^(0)π^(0)(non-η)are determined to be(75.2±1.1_(stat).±1.5_(syst.))%and(68.9±1.5_(stat).±2.4_(syst.))%,respectively.The branching fractions of D^(0)→π^(+)π^(−)π^(+)π^(−)and D^(0)→π^(+)π^(−)π^(0)π^(0)(non-η)are measured to be(0.688±0.010_(stat.)±0.010_(syst.))%and(0.951±0.025_(stat.)±0.021_(syst.))%,respectively.The amplitude analysis provides an important model for the binning strategy in measuring the strong phase parameters of D^(0)→4πwhen used to determine the CKM angleγ(ϕ_(3))via the B^(−)→DK^(−)decay.

Observation of e^(+)e^(-)→pppñπ-+c.c.

Using data taken at 29 center-of-mass energies between 4.16 and 4.70 GeV with the BESⅢdetector at the Beijing Electron Positron Collider corresponding to a total integrated luminosity of approximately 18.8 fb^(-1),the process e^(+)e^(-)→pppñπ+c.c.is observed for the first time with a statistical significance of 11.5σ.The average Born cross sections in the energy ranges of(4.160,4.380)GeV,(4.400,4.600)GeV and(4.610,4.700)GeV are measured to be(21.5±5.7±1.2)fb,(46.3±10.6±2.5)fb and(59.0±9.4±3.2)fb,respectively,where the first uncertainties are statistical and the second are systematic.The line shapes of the pñ and ppπ^(-)invariant mass spectra are consistent with phase space distributions,indicating that no hexaquark or di-baryon state is observed.

Search for hidden-charm tetraquark with strangeness in e^(+)e^(−)→K^(+)D_(s)^(∗−) D^(∗0 )+ c.c.

We report a search for a heavier partner of the recently observed Z_(cs)(3985)^(-) state,denoted as Z_(cs)^('-),in the process e^(+)e^(−)→K^(+)D_(s)^(∗−) D^(∗0 )+ c.c.,based on e^(*)e^(-)collision data collected at the center-of-mass energies of √s=4.661,4.682 and 4.699 GeV with the BESIII detector.The Z_(cs)^('-) is of interest as it is expected to be a candidate for a hidden-charm and open-strange tetraquark.A partial-reconstruction technique is used to isolate K^(+)recoil-mass spectra,which are probed for a potential contribution from Z_(cs)^('-)→D_(s)^(∗−) D^(∗0 )+ c.c.We find an excess of Z_(cs)^('-)→D_(s)^(*-)-D^(*0)(c.c.)candidates with a significance of 2.1o,after considering systematic uncertainties,at a mass of(4123.5±0.7_(sat)±4.7_(syst.))MeV/c^(2).As the data set is limited in size,the upper limits are evaluated at the 90%confidence level on the product of the Born cross sections(σ^(Borm))and the branching fraction(B)of Z_(cs)^('-)→D_(s)^(*-)-D^(*0),under different assumptions of the Z_(cs)^('-) mass from 4.120 to 4.140 MeV and of the width from 10 to 50 MeV at the three center-of-mass energies.The upper limits of σ^(Born).B are found to be at the level of O(1)pb at each energy.Larger data samples are needed to confirm the Z_(cs)^('-) state and clarify its nature in the coming years.

Search for the weak decayψ(3686)→■+c.c.

Using(448.1±2.9)×10^(6)ψ(3686)for the weak baryonic decayψ(3686)→Λc+∑-+c.c..The analysis procedure is optimized using a blinded method.No significant signal is observed,and the upper limit on the branching fraction(B)ofψ(3686)→Λc+∑-+c.c.is set as 1.4×10^(-5)at the 90%confidence level.

Observations of the Cabibbo-Suppressed decays Λ_(c)^(+)→nπ+π^(0),nπ^(+)π^(-)π^(+) and the Cabibbo-Favored decay Λ_(c)^(+)→nK^(-)π^(+)π^(+)

Using electron-positron annihilation data samples corresponding to an integrated luminosity of 4.5 fb-1,collected by the BESⅢdetector in the energy region between 4599.53 MeV and 4698.82 MeV,we report the first observations of the Cabibbo-suppressed decaysΛ_(c)^(+)→nπ^(+)π^(0),Λ_(c)^(+)→nπ^(+)π^(-)π^(+),and the Cabibbo-favored decayΛ_(c)^(+)→nK^(-)π^(+)π^(+)with statistical significances of 7.9σ,7.8σ,and>10σ,respectively.The branching fractions of these decays are measured to be B(Λ_(c)^(+)→nπ^(+)π^(0))=(0.64±0.09±0.02)%,B(Λ_(c)^(+)→nπ^(+)π^(-)π^(+))=(0.45±0.07±0.03)%,and B(Λ_(c)^(+)→nK^(-)π^(+)π^(+))=(1.90±0.08±0.09)%,where the first uncertainties are statistical and the second are systematic.We find that the branching fraction of the decayΛ_(c)^(+)→nπ^(+)π^(0)is about one order of magnitude higher than that ofΛ_(c)^(+)→nπ^(+).

特重烧伤患者术后低体温护理的研究进展

对特重烧伤患者进行护理时应当加强手术后以及肠内营养治疗等环节,患者的保温护理工作,降低患者发生低体温的情况,使患者的并发症状减少,提高患者的康复效果,改善患者生活质量。

Measurement of integrated luminosities at BESⅢ for data samples at center-of-mass energies between 4.0 and 4.6 GeV

The integrated luminosities of data samples collected in the BESⅢ experiment in 2016-2017 at centerof-mass energies between 4.19 and 4.28 GeV are measured with a precision better than 1% by analyzing large-angle Bhabha scattering events.The integrated luminosities of old datasets collected in 2010-2014 are updated by considering corrections related to detector performance,offsetting the effect of newly discovered readout errors in the electromagnetic calorimeter,which can haphazardly occur.

Luminosities and energies of e^(+)e^(−) collision data taken between √s=4.61 GeV and 4.95 GeV at BESⅢ

From December 2019 to June 2021,the BESⅢ experiment collected approximately 5.85 fb^(−1) of data at center-of-mass energies between 4.61 and 4.95 GeV.This is the highest collision energy BEPCⅡ has reached to date.The accumulated e^(+)e^(−) annihilation data samples are useful for studying charmonium(-like)states and charmed-hadron decays.By adopting a novel method of analyzing the production of A_(c)^(+)A_(c)^(-) pairs in e^(+)e^(−) annihilation,the center-of-mass energies are measured with a precision of 0.6 MeV.Integrated luminosities are measured with a precision of better than 1% by analyzing the events of large-angle Bhabha scattering.These measurements provide important inputs to analyses based on these data samples.