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Novel KDM6A mutation in a Chinese infant with Kabuki syndrome: A case report

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World Journal of Clinical Cases 2021年第33期9卷 10257-10264页

作者： Hong-Xian Guo Bao-Wei Li mei hu Shao-Yan Si Kai Feng Department of Paediatrics Strategic Support Force Medical Center of PLABeijing 100101China Department of ENT Strategic Support Force Medical Center of PLABeijing 100101China ICU Strategic Support Force Medical Center of PLABeijing 100101China Special Medical Center Strategic Support Force Medical Center of PLABeijing 100101China

BACKGROUND Kabuki syndrome(KS)is a rare syndrome characterized by multisystem congenital anomalies and developmental ***2D and KDM6A mutations were identified as the main causative genes in KS *** are few case reports and genetic analyses,especially of KDM6A gene mutation,in *** SUMMARY This study reports a de novo KDM6A mutation in a Chinese infant with KS.A 2-month-old Chinese baby was diagnosed with KS,which manifested as hypoglycemia,congenital anal atresia at birth,feeding difficulties,hypotonia,and serious postnatal growth *** died of recurrent respiratory infections at age 13 *** sequencing of his blood DNA revealed a novel KDM6A frameshift mutation(c.704_705delAG,p.N236Sfs*26)(GRCh37/hg19).CONCLUSION We present a Chinese KS patient with a novel KDM6A frameshift mutation(c.704_705delAG,p.N236Sfs*26)(GRCh37/hg19),broadening the mutation spectrum.

关键词： Kabuki syndrome KDM6A Gene mutation Chinese Case report

面向摄像头视频监控的泥石流发生场景智能识别方法

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计算机与现代化 2024年第3期 41-46页

作者：胡美辰刘敦龙桑学佳张少杰陈乔成都信息工程大学软件工程学院四川成都610225 四川省信息化应用支撑软件工程技术研究中心四川成都610225 中国科学院水利部成都山地灾害与环境研究所四川成都610041 中国科学院重庆绿色智能技术研究院重庆400714

摄像头视频监控在泥石流防灾减灾中的应用较为广泛,但现有的视频检测技术功能有限,无法自动判断出泥石流灾害事件的发生。针对这一问题,本文基于迁移学习策略,改进一种基于卷积神经网络的视频分类方法。首先,借助TSN模型框架,将底层网... 详细信息

摄像头视频监控在泥石流防灾减灾中的应用较为广泛,但现有的视频检测技术功能有限,无法自动判断出泥石流灾害事件的发生。针对这一问题,本文基于迁移学习策略,改进一种基于卷积神经网络的视频分类方法。首先,借助TSN模型框架,将底层网络架构更改为ResNet-50,用于运动特征提取和泥石流场景识别。然后,通过ImageNet和Kinet-ics-400数据集预训练该模型,使模型具备较强的泛化能力。最后,结合经过预处理的地质灾害视频数据集对模型进行训练和微调,使其能够精准地识别出泥石流事件。通过大量的运动场景视频对该模型进行检验,实验结果表明,该方法对泥石流运动场景视频的识别准确率可达87.73%。因此,本文的研究成果可充分发挥视频监控在泥石流监测预警中的作用。

关键词：泥石流视频监控运动场景迁移学习智能识别

Peptide binding specificities of HLA-B*5701 and B*5801

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Science China(Life Sciences) 2012年第9期55卷 818-825页

作者： ZHANG YaLan mei hu WANG Qing XlEJiangAn LV Juan PAN XianChao TAN Wen Key Laboratory of Biorheological Science and Technology(Ministry of Education)Chongqing University Chongqing 400044China College of Bioengineering Chongqing UniversityChongqing 400044China

Recently, genome wide association studies showed that there is a strong association between abacavir-induced serious, idio- syncratic, adverse drag reactions （ADRs） and human leukocyte antigen-B＊5701 （HLA-B＊5701）. Studies also found that ab- acavir-induced ADRs were seldom observed in patients carrying the HLA-B＊5801 subtype. HLA-B＊5801 of the same sero- type （B17） as B＊5701 differs by only 4 amino acids from B＇5701. It is believed that because of these sequence differences, HLA-B＊5801 cannot bind the specific peptides which are required for HLA-B＊5701 to stimulate the T cell immune response. Thus, the difference in peptide binding profiles between HLA-B＊5701 and B＊5801 is an important clue for exploring the mechanisms of abacavir-induced ADRs. VHSE （principal component score vector of hydrophobic, steric, and electronic prop- erties）, a set of amino acid structural descriptors, was employed to establish QSAR models of peptide-binding affinities of HLA-B＊5701 and B＊5801. Optimal linear SVM （support vector machine） models with high predictive capabilities were ob- tained for both B＊5701 and B＇5801. The R2 （coefficient of determination）, Q2 （cross-validated R：）, and RpRE2 （R2 of test set） of two optimal models were 0,7530, 0.7037, 0.6153 （B＇5701） and 0.6074, 0.5966, 0.5762 （B＊5801）, respectively. For B＇5701 and B＇5801, the mutations in positions 45 （MET-THR） and 46 （ALA-GLU） have little influence on the selection specificity of the P2 position of the bound peptide. However, the mutation in position 97 （VAL-ARG） greatly influences the selection speci- ficity of the P7 position. HLA-B＊5701 prefers the bulky and positively charged amino acids at the P7 position. In contrast, HLA-B＊5801 prefers the non-polar hydrophobic amino acids at the P7 position while positively charged amino acids are un- favored.

关键词： human leukocyte antigen B*5701 B*5801 SVM P-I concept VHSE

UPLC-MS/MS测定特殊医学用途配方乳粉中姜黄素类化合物

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中国乳品工业 2024年第1期52卷 59-64页

作者：公丕学戴琨薛霞徐大玮赵寅王骏胡梅张喜琦刘艳明山东省食品药品检验研究院国家市场监管重点实验室(肉及肉制品监管技术)产业技术基础公共服务平台山东省特殊医学用途配方食品质量控制工程技术研究中心济南250101

建立基于通过式固相萃取净化检测特殊医学用途配方乳粉中姜黄素的超高效液相色谱串联质谱检测方法。样品经80%乙腈提取,通过Oasis PRiME HLB固相萃取柱净化后,以乙腈-0.1%甲酸溶液作为流动相,在acquity UPLC HSS T_(3)色谱柱上进行梯度... 详细信息

建立基于通过式固相萃取净化检测特殊医学用途配方乳粉中姜黄素的超高效液相色谱串联质谱检测方法。样品经80%乙腈提取,通过Oasis PRiME HLB固相萃取柱净化后,以乙腈-0.1%甲酸溶液作为流动相,在acquity UPLC HSS T_(3)色谱柱上进行梯度洗脱,经超高效液相色谱仪进行分离后,通过电喷雾正离子模式电离,多反应监测模式进行检测分析,外标法定量。对目标物进行稳定性研究,对样品中目标物提取、净化方式、色谱分离条件、质谱条件等关键因素进行了优化。结果表明,3种姜黄素类化合物在25~2 500 ng/mL范围内线性关系好,相关系数高于0.99,加标回收率在87.9%~102.8%之间,精密度在1.31%~4.94%之间,3种姜黄素类化合物的检出限为10μg/kg,定量限为25μg/kg。该方法定性定量结果准确、稳定性好、灵敏度高,能够对特殊医学用途配方乳粉中姜黄素类化合物进行定性分析与定量检测。

关键词：姜黄素类化合物 Oasis PRiME HLB 特殊医学用途配方乳粉液相色谱串联质谱法

Apparent diffusion coefficient-based histogram analysis differentiates histological subtypes of periampullary adenocarcinoma

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World Journal of Gastroenterology 2019年第40期25卷 6116-6128页

作者： Jing-Yu Lu Hao Yu Xian-Lun Zou Zhen Li Xue-mei hu Ya-Qi Shen Dao-Yu hu Department of Radiology Tongji HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan 430030Hubei ProvinceChina Department of Radiology the First Affiliated Hospital of Soochow UniversitySuzhou 215006Jiangsu ProvinceChina

BACKGROUND For periampullary adenocarcinoma,the histological subtype is a better prognostic predictor than the site of tumor ***-type periampullary adenocarcinoma(IPAC)is reported to have a better prognosis than the pancreatobiliary-type periampullary adenocarcinoma(PPAC).However,the classification of histological subtypes is difficult to determine before *** diffusion coefficient(ADC)histogram analysis is a noninvasive,nonenhanced method with high reproducibility that could help differentiate the two *** To investigate whether volumetric ADC histogram analysis is helpful for distinguishing IPAC from *** Between January 2015 and October 2018,476 consecutive patients who were suspected of having a periampullary tumor and underwent magnetic resonance imaging(MRI)were reviewed in this retrospective *** patients who underwent MRI at 3.0 T with different diffusion-weighted images(b-values=800 and 1000 s/mm^2)and who were confirmed with a periampullary adenocarcinoma were further ***,the mean,5th,10th,25th,50th,75th,90th,and 95th percentiles of ADC values and ADCmin,ADCmax,kurtosis,skewness,and entropy were obtained from the volumetric histogram *** were made by an independent Student's t-test or Mann-Whitney U ***-class receiver operating characteristic curve analysis was performed to determine and compare the diagnostic value of each significant *** In total,40 patients with histopathologically confirmed IPAC(n=17)or PPAC(n=23)were *** mean,5th,25th,50th,75th,90th,and 95th percentiles and ADCmax derived from ADC1000 were significantly lower in the PPAC group than in the IPAC group(P<0.05).However,values derived from ADC800 showed no significant difference between the two *** 75th percentile of ADC1000 values achieved the highest area under the curve(AUC)for differentiating IPAC from PPAC(AUC=0.781;sensitivity,91%;specificity,59%;cut-off value,1.50×10^-3

关键词： Periampullary adenocarcinoma Apparent diffusion coefficient Histogram analysis Histopathology Differential diagnosis

DYNAMIC CHARACTERISTICS OF LIQUID FORCED SLOSHING IN A TURNING SPHERICAL TANK WITH A SPACER UNDER LOW GRAVITY

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Journal of Hydrodynamics 2008年第2期20卷 202-209页

作者： CHENG Xu-duo hu mei-zhu WEN Ji-hua School of Food Science and Engineering Nanjing University of Finance and Economics Nanjing 210003China Department of Physics Anqing Teachers College Anging 246011 China

Under the condition of low gravity the characteristics of liquid forced sloshing in a turning spherical tank with a spacer were investigated. The static shape of the liquid surface was analyzed. By expanding the characteristic functions, the frequencies and velocity potential of liquid free-sloshing were derived. The governing equations and boundary conditions for the forced sloshing of liquid under the tank turning were established. The transverse force of liquid acting on the tank and the moment of force to the centre of the tank which is caused by the force of liquid acting on the spacer were given. Numerical results were compared with the ones of the spherical tank without a spacer. The results show that when a spacer is inserted in the tank, the sloshing frequency of liquid and the transverse force of liquid acting on the tank will decrease, but the moment of force to the centre of the tank which is caused by the force of liquid acting on the spacer will occur.

关键词： low gravity forced sloshing of liquid sloshing suppression

DYNAMIC CHARACTERISTICS OF LIQUID SLOSHING IN A TRANSVERSELY VIBRATING SPHERICAL TANK WITH A SPACER UNDER LOW GRAVITY

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Journal of Hydrodynamics 2008年第6期20卷 762-769页

作者： CHENG Xu-duo hu mei-zhu WEN Ji-hua School of Food Science and Engineering Nanjing University of Finance and Economics Nanjing 210003 China Department of Physics Anqing Teachers College Anqing 246011 China

The dynamic characteristics of liquid sloshing in a transversely vibrating spherical tank with spacer under low gravity were investigated. By expanding the characteristic functions, the frequencies and velocity potentials of liquid free-sloshing were obtained. The dynamic equations and boundary conditions of liquid sloshing in the traverse vibrational spherical tank with spacer under low gravity were derived. By modifying the velocity potentials of liquid free-sloshing, the velocity potentials of liquid sloshing in the traverse vibrating spherical tank with a spacer were obtained. Furthermore, the forces and the moments acting on tank wall were given. The numerical results show when a spacer is inserted in the tank, the sloshing frequencies of liquid and the forces acting on tank wall will decrease, but the moment of force to the centre of the tank which is caused by the force of liquid acting on the spacer will occur.

关键词： low gravity liquid forced sloshing sloshing suppression

Relationship between the Stratospheric Arctic Vortex and Surface Air Temperature in the Midlatitudes of the Northern Hemisphere

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Journal of Meteorological Research 2024年第1期38卷 39-52页

作者： Xue RAN Dingzhu hu Yang ZHANG mei-Chen LIU Key Laboratory of Meteorological Disaster Ministry of Education(KLME)/Joint International Research Laboratory of Climate and Environmental Change(ILCEC)/Collaborative Innovation Center on Forecast and Evaluation of Meteorological Disasters(CIC-FEMD)Nanjing University of Information Science&TechnologyNanjing 210044 School of Atmospheric Sciences Nanjing UniversityNanjing 210023

It is known that different relationships exist between the strength and displacement of the stratospheric polar vortex(SPV),and the surface air temperature(SAT)patterns in Eurasia and North America,but the mechanisms behind these relationships remain unclear,especially on an interannual *** on empirical orthogonal function(EOF)analysis using NCEP reanalysis data over 1958–2018,this study attempts to ascertain the relationship between the SPV intensity and displacement over the Arctic and the SATs in the midlatitudes of the Northern *** results indicate that a strengthened SPV corresponds to an SAT increase in Eurasia and a decrease in eastern North America and *** the SPV is shifted towards Eurasia,however,a corresponding SAT increase occurs in both North America and Eurasia,with a larger increase in North America than in ***,a strengthened SPV tends to correspond to a positive North Atlantic Oscillation-like circulation in the troposphere with negative geopotential height(GH)anomalies in Greenland and eastern North American continent and positive GH anomalies to the north of 45°N in Eurasia,which corresponds to lower SATs in North America than in ***,when the SPV shifted towards Eurasia,it was accompanied by a positive Pacific/North American-like pattern with a deepened Aleutian low,which corresponds to the increasing SATs in North *** tropospheric circulation changes are related to the response of tropospheric planetary wave activity to the SPV.A strengthened SPV corresponds to the weakening of tropospheric planetary wave-1 waves,which is accompanied by a negative GH in North America but a positive GH in *** the SPV shifted towards Eurasia,the tropospheric planetary wave-1(-2)waves strengthened(weakened),and the combined effects of the planetary wave-1 and wave-2 waves would cause positive GH anomalies in both Eurasia and North America.

关键词： stratospheric polar vortex surface air temperature teleconnection patterns planetary waves

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黄帝内针联合氟桂利嗪治疗偏头痛疗效观察

海南医学 2024年第1期35卷 62-66页

作者：许艺娴陈醉胡冬梅周晓燕广州市天河区中医医院广东广州510655 广州市老年医院(广州市老人院) 广东广州510550

目的研究黄帝内针联合氟桂利嗪治疗偏头痛的临床疗效。方法选取2022年5月至2023年5月广州市天河区中医医院内科治疗的70例慢性偏头痛患者作为研究对象,按随机数表法分为观察组和对照组各35例。对照组患者给予氟桂利嗪治疗,观察组患者在... 详细信息

目的研究黄帝内针联合氟桂利嗪治疗偏头痛的临床疗效。方法选取2022年5月至2023年5月广州市天河区中医医院内科治疗的70例慢性偏头痛患者作为研究对象,按随机数表法分为观察组和对照组各35例。对照组患者给予氟桂利嗪治疗,观察组患者在对照组治疗的基础上给予黄帝内针治疗,两组患者均连续治疗4周。比较两组患者的临床疗效(采用中医证候评分),治疗前后的偏头痛每周发生天数、次数、偏头痛发作持续时间(采用头痛日记法)和头痛程度{[采用头痛视觉模拟量表(VAS-H)]以及生活质量[采用头痛影响测试量表-6(HIT-6)]};于治疗前后采用经颅多普勒超声检测并比较两组患者的脑血流动力学情况[大脑前动脉(ACA)、中动脉(MCA)、后动脉(PCA)的血流速度]。随访4周比较两组患者的偏头痛复发率。结果观察组患者的治疗总有效率和显效率分别为94.29%、74.29%,明显高于对照组的71.43%、42.86%,差异均有统计学意义(P<0.05);观察组患者治疗后的偏头痛发作次数、天数及发作持续时间分别为(1.37±1.33)次、(0.91±0.85)d,(1.03±0.91)h,明显少(短)于对照组的(2.37±1.73)次、(1.37±0.84)d、(2.03±1.12)h,差异均有统计学意义(P<0.05);观察组患者治疗后的VAS-H、HIT-6与中医证候评分分别为(1.34±1.30)分、(36.31±5.17)分、(5.91±4.88)分,明显低于对照组的(2.49±1.60)分、(42.91±5.15)分、(8.91±3.94)分,差异均具有统计学意义(P<0.05);观察组患者治疗后的ACA、MCA、PCA分别为(89.15±4.15)cm/s、(99.69±3.19)cm/s、(68.61±4.20)cm/s,明显慢于对照组的(92.97±3.67)cm/s、(108.56±6.94)cm/s、(75.59±6.07)cm/s,差异均有统计学意义(P<0.05);随访4周,观察组患者的复发率为11.43%,明显低于对照组的48.57%,差异有统计学意义(P<0.05)。结论黄帝内针联合氟桂利嗪能够有效改善偏头痛患者的症状与生活质量,其作用与调节患者脑血流动力学紊乱有关。

关键词：偏头痛黄帝内针氟桂利嗪肝阳上亢血流动力学疗效

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