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一个15例患病的法布雷病家系分析

中华内科杂志 2024年第10期63卷 1001-1006页

作者：杨钧岚姜佳楠韦致远彭思琪王彬王凤梅孙丽何伟明张晓良东南大学医学院南京东南大学附属中大医院肾脏科南京江苏省盱眙县人民医院肾内科淮安江苏省中医院南京中医药大学附属医院肾内科南京

患者(先证者)男, 28岁。因皮疹22年, 尿检异常14年入东南大学附属中大医院肾内科, 基因检测示α-半乳糖苷酶 A基因(GLA基因)存在c.735G>A(***245*)半合子突变;α-半乳糖苷酶 A(α galactosidase A, α-Gal A)活性为0.36 μmol·L-1·h-... 详细信息

患者(先证者)男, 28岁。因皮疹22年, 尿检异常14年入东南大学附属中大医院肾内科, 基因检测示α-半乳糖苷酶 A基因(GLA基因)存在c.735G>A(***245*)半合子突变;α-半乳糖苷酶 A(α galactosidase A, α-Gal A)活性为0.36 μmol·L-1·h-1, 脱乙酰基三己糖酰基鞘脂醇(Lyso-GL-3)为71.09 ng/ml;肾组织穿刺活检病理示, 肾小球足细胞弥漫泡沫变性;患者存在左心室肥厚及蛋白尿;诊断为法布雷病。对其家系进行筛查发现15例(男性4例, 女性11例)患法布雷病, 3例疑似存在突变(男性1例, 女性2例)。患病成员均有不同程度的 Lyso-GL-3沉积及α-Gal A酶活性下降, 但临床表型存在异质性。6例患者(男性2例, 女性4例)进行了酶替代治疗(每两周静脉滴注阿加糖苷酶β 1 mg/kg), 1例患者出现一过性四肢抽搐伴头晕。3例患者进行酶替代治疗1年后, Lyso-GL-3 下降, 尿蛋白减少, 心功能改善, 周围神经症状及血管角质瘤减轻, 但肾功能仍在进行性恶化。通过分析该家系基因型、临床表型及预后, 强调了家系筛查在早期诊断并治疗法布雷病患者的重要性, 提高临床医生对其的诊疗水平。

关键词：法布里病基因突变 GLA基因酶替代治疗

Real-world emission factors for Caterpillar 797B heavy haulers during mining operations

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Particuology 2016年第5期14卷 22-30页

作者： xiaoliang w.ng Judith C. Chow Steven D. Kohl Kevin E. Percy Allan H. Legge John G. watson Desert Research Institute 2215 Raggio Parkway Reno NV 895J2 USA Graduate Faculty University of Nevada Reno NV89503 USA The State Key Laboratory of Loess and Quaternary Geology Institute of Earth Environment Chinese Academy of Sciences Xi'an 710075 China wood Buffalo Environmental Association 330 Thickwood Boulevard Fort McMurray AB Canada 7DK 1 Y1 Biosphere Solutions 1610 1 lth Avenue N.W. Calgary AB Canada T2N IG9

Real-world fuel-based emission factors （EFs） from Caterpillar 797B diesel heavy haulers when used for oil sands mining operations were measured using an on-hoard portable emissions monitoring system. Average EFs （in g/kg fuel） for 16 separate tests on four trucks were 3150 ± 4 for CO2, 2.51 ± 1.30 for CH4, 10.28 ± 3.21 for CO, 0.61 ± 0.32 for non-methane hydrocarbons, 55.49 ± 9,75 for NOx （reported as NO2）, 0.70 ± 0.17 for PM2.s （mass of particles with aerodynamic diameter 〈2.5 μm）, and 0.34 ± 0.05 for black carbon （BC）. Ultrafine particle numbers averaged （4.7 ± 4.1 ） × 10^15 particleslkg fuel. Fuel-based EFs of NO, NO2, and particle numbers were higher during idling, whereas PM2.5 and BC EFs were higher during traveling without a load. A comparison of emissions with those reported by oil sands facilities showed large variations, both among the facilities and between the reported emissions and the real-world measurements.

关键词： Heavy hauler Emission Nonroad Portable emissions measurement system Mining Oil sands

First-principles analysis of phonon thermal transport properties of two-dimensional wS2/wSe2 heterostructures

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Chinese Physics B 2021年第3期30卷 25-35页

作者： Zheng Chang Kunpeng Yuan Zhehao Sun xiaoliang Zhang Yufei Gao Xiaojing Gong Dawei Tang Key Laboratory of Ocean Energy Utilization and Energy Conservation of Ministry of Education School of Energy and Power EngineeringDalian University of TechnologyDalian 116024China Institute of Materials Science and Engineering National Experimental Demonstration Center for Materials Science and EngineeringChangzhou UniversityChangzhou 213164China

The van der waals(vdw)heterostructures of bilayer transition metal dichalcogenide obtained by vertically stacking have drawn increasing attention for their enormous potential applications in semiconductors and ***,by using the first-principles calculations and the phonon Boltzmann transport equation(BTE),we studied the phonon transport properties of wS2/wSe2 bilayer heterostructures(wS2/wSe2-BHs).The lattice thermal conductivity of the ideal wS2/wSe2-BHs crystals at room temperature(RT)was 62.98 w/mK,which was clearly lower than the average lattice thermal conductivity of wS2 and wSe2 single *** interesting finding is that the optical branches below 4.73 THz and acoustic branches have powerful coupling,mainly dominating the lattice thermal ***,we also noticed that the phonon mean free path(MFP)of the wS2/wSe2-BHs(233 nm)was remarkably attenuated by the free-standing monolayer wS2(526 nm)and wSe2(1720 nm),leading to a small significant size effect of the wS2/*** results systematically demonstrate the low optical and acoustic phonon modes-dominated phonon thermal transport in heterostructures and give a few important guidelines for the synthesis of van der waals heterostructures with excellent phonon transport properties.

关键词： wS2/wSe2 bilayer heterostructures thermal transport first-principles Boltzmann transport equation

First-principles investigation of the significant anisotropy and ultrahigh thermoelectric efficiency of a novel two-dimensional Ga_(2)I_(2)S_(2) at room temperature

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International Journal of Extreme Manufacturing 2022年第2期4卷 100-112页

作者： Zheng Chang Ke Liu Zhehao Sun Kunpeng Yuan Shuwen Cheng Yufei Gao xiaoliang Zhang Chen Shen Hongbin Zhang Ning w.ng Dawei Tang Key Laboratory of Ocean Energy Utilization and Energy Conservation of Ministry of Education School of Energy and Power EngineeringDalian University of TechnologyDalian 116024People’s Republic of China Research Office of Propulsion Technology Expace Technology Corporation LimitedBeijing 100176People’s Republic of China Research School of Chemistry Australian National UniversityCanberraACT 2601Australia School of Metallurgy Northeastern UniversityShenyang 100819People’s Republic of China Institut fur Materialwissenschaft Technische Universitat DarmstadtDarmstadt 64283Germany School of Physics University of Electronic Science and Technology of ChinaChengdu 610054People’s Republic of China

Two-dimensional(2D)thermoelectric(TE)materials have been widely developed;however,some 2D materials exhibit isotropic phonon,electron transport properties,and poor TE performance,which limit their application ***,exploring excellent anisotropic and ultrahigh-performance TE materials are very ***,we first investigate the phonon thermal and TE properties of a novel 2D-connectivity ternary compound named *** paper comprehensively studies the phonon dispersion,phonon anharmonicity,lattice thermal conductivity,electronic structure,carrier mobility,Seebeck coefficient,electrical conductivity,and the dimensionless figure of merit(ZT)versus carrier concentration for 2D Ga_(2)I_(2)S_(2).we conclude that the in-plane lattice thermal conductivities of Ga_(2)I_(2)S_(2) at room temperature(300 K)are found to be 1.55 w mK^(−1) in the X-axis direction(xx-direction)and 3.82 w mK^(−1)in the Y-axis direction(yy-direction),which means its anisotropy ratio reaches ***,the TE performance of p-type and n-type doping 2D Ga2I2S2 also shows significant anisotropy,giving rise to the ZT peak values of p-type doping in xx-and yy-directions being 0.81 and 1.99,respectively,and those of n-type doping reach ultrahigh values of 7.12 and 2.89 at 300 K,which are obviously higher than the reported values for p-type and n-type doping ternary compound Sn2BiX(ZT∼1.70 and∼2.45 at 300 K)(2020 Nano Energy 67104283).This work demonstrates that 2D Ga_(2)I_(2)S_(2) has high anisotropic TE conversion efficiency and can also be used as a new potential room-temperature TE material.

关键词： thermoelectricity strong anisotropy two-dimensional materials room temperature first-principles calculation

Risk factors of hyperprolactinemia induced by risperidone and olanzapine and their correlations with plasma glucose and lipids

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General Psychiatry 2020年第4期33卷 194-200页

作者： Sidi He wen Juan Yu xiaoliang w.ng Lei Zhang Nan Zhao Guanjun Li Yi Feng Shen Huafang Li Shanghai Mental Health Center Shanghai Jiao Tong University School of MedicineShanghaiChina Shanghai Pudong New Area Mental Health Center ShanghaiChina Clinical Research Center Shanghai Jiao Tong University School of MedicineShanghaiChina Shanghai Key Laboratory of Psychotic Disorders ShanghaiChina

Background Hyperprolactinemia is a common adverse reaction in patients with schizophrenia who take antipsychotic drugs;it often leads to treatment noncompliance in patients and has an adverse effect on their *** This study aimed to explore the risk factors of elevated prolactin(PRL)caused by risperidone(RIS)and olanzapine(OLZ)and the relationship between PRL and fasting plasma glucose and *** Patients with schizophrenia were divided into two groups:264 patients who were taking RIS and 175 patients who were taking *** two groups were further divided according to serum PRL levels:an elevated PRL group(>30ng/mL)and a normal PRL group(PRLng/mL).The demographics,medication dosage,fasting plasma glucose,total cholesterol and triglycerides were compared in the two *** regression analysis was performed to explore the risk factors of elevated PRL *** Compared with the OLZ group,the RIS group had a greater number of patients with elevated PRL(155/264 vs 58/175).Either the RIS or the OLZ group,the proportion of elevated PRL was greater in female patients(RIS:x^2=6.76,p=0.009;OLZ:x^2=12.98,pwith higher doses of the related drugs(RIS:U=-3.73,png RIS,the elevated PRL subgroup took the drug for a longer period(U=-2.76,p=0.006)and had lower triglyceride levels(U=2.76,p=0.006).In patients taking OLZ,the elevated PRL subgroup had lower fasting plasma glucose levels(U=2.29,p=0.022).Logistic regression analysis showed that gender,dose and fasting glucose levels were significantly associated with elevated PRL levels(RIS:p=0.001,OLZ:pwith OLZ,RIS had a greater effect on PRL in patients with schizophrenia,and in patients with schizophrenia taking RIS or OLZ,gender and dose were significantly correlated with the PRL ***,the plasma glucose level of the group with elevated PRL was lower

关键词： elevated drugs dosage

Efficient and stable semitransparent quantum dot solar cells

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Efficient and stable semitransparent quantum dot solar cells

Brain-derived neurotrophic factor inhibits glucose intolerance after cerebral ischemia

第五届新型太阳能电池学术研讨会

作者： xiaoliang Zhang School of Materials Science and Engineering Beihang University Department of Chemistry-ngstr?m Physical ChemistryUppsala University

PbS quantum dots(QDs) attract increasing attention for the application in the solar cells due to the size-tunable optical bandgap,solution processability,low-cost and high *** progress was achieved in the past few years by finely controlling the QD surface chemistry,solar cell device architecture,interfacial properties and device physics,and a high power conversion efficiency(PCE) of more than 11% was achieved for a traditional opaque PbS QD solar *** semitransparent solar cells(SSCs) the photovoltaic efficiency and the transparency are the two primary objectives for utilization in for example building integrated *** QDs have broad and strong light absorption spectrum covering the ultraviolent-visible-near infrared region,allow.ng use of very thin QD solid film in the solar cells with high *** Pb S SSCs with tunable infrared light absorption and high stability was studied by combining experimental investigations and numerical theoretical *** fine-controlling the electro-optics in the SSCs and the approach for the QD solid film deposition,the power loss in the SSCs is significantly decreased,yielding a SSC with a PCE of 8.4% and an average visible transmittance of 21.4%,*** 540 hours continuous 100 m w/cm illumination the SSC still shows 5% of its initial *** also prepared an ultra-flexible and lightweight QD solar cell constructed with a solution-processed Ag nanowire network with good mechanical properties as the front transparent and conductive electrode on a flexible plastic substrate with a thickness of .3 μ*** thickness of the full QD solar cell is less than 2 μm and with a weight of 6.5 g/m is achieved.

关键词： quantum dot solar cell transparent photovoltaic optoelectronic materials

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Neural Regeneration Research 2013年第25期8卷 2370-2378页

作者： xiaoliang Shu Yongsheng Zhang Han Xu Kai Kang Donglian Cai Department of Nutrition Affiliated Dongfang Hospital of Tongji University Department of Nutrition First Affiliated Hospital of Guangxi Medical University Department of Nutrition Affiliated Changhai Hospital of the Second Military Medical University of Chinese PLA

Brain-derived neurotrophic factor is associated with the insulin signaling pathway and glucose me- tabolism. we hypothesized that expression of brain-derived neurotrophic factor and its receptor may be involved in glucose intolerance follow.ng ischemic stress. To verify this hypothesis, this study aimed to observe the changes in brain-derived neurotrophic factor and tyrosine kinase B receptor expression in glucose metabolism-associated regions follow.ng cerebral ischemic stress in mice. At day 1 after middle cerebral artery occlusion, the expression levels of brain-derived neurotrophic factor were significantly decreased in the ischemic cortex, hypothalamus, liver, skeletal muscle, and pancreas. The expression levels of tyrosine kinase B receptor were decreased in the hypothalamus and liver, and increased in the skeletal muscle and pancreas, but remained unchanged in the cortex Intrahypothalamic administration of brain-derived neurotrophic factor （40 ng） suppressed the de- crease in insulin receptor and tyrosine-phosphorylated insulin receptor expression in the liver and skeletal muscle, and inhibited the overexpression of gluconeogenesis-associated phosphoenolpy- ruvate carboxykinase and glucose-6-phosphatase in the liver of cerebral ischemic mice. However, serum insulin levels remained unchanged. Our experimental findings indicate that brain-derived neurotrophic factor can promote glucose metabolism, reduce gluconeogenesis, and decrease blood glucose levels after cerebral ischemic stress. The low expression of brain-derived neurotrophic factor follow.ng cerebral ischemia may be involved in the development of glucose intolerance.

关键词： neural regeneration brain injury cerebral ischemic stress brain-derived neurotrophic factor insulinreceptor cerebral ischemia/reperfusion injury hypothalamus diabetes mellitus hyperglycemia glucose intolerance grants-supported paper neuroregeneration

滇东北地区太阳坝大型沉积型铝土矿的发现及其意义

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沉积与特提斯地质 2024年第3期44卷 671-682页

作者：王子正冯兴雷牛浩斌黄宣凯葛祥英周邦国崔晓亮王生伟郭阳中国地质调查局成都地质调查中心(西南地质科技创新中心) 四川成都610218 云南地质工程勘察设计研究院有限公司云南昆明650200

铝土矿是我国重要的战略性矿产之一,渝南—黔北地区是上扬子陆块内著名的成铝区,与之毗邻的滇东北地区整体处于上扬子陆块南部滇东被动陆缘碳酸盐岩台地,是铝成矿的有利区位,但一直未有突破性发现。近年来,基于1∶1万矿产地质调查,通过... 详细信息

铝土矿是我国重要的战略性矿产之一,渝南—黔北地区是上扬子陆块内著名的成铝区,与之毗邻的滇东北地区整体处于上扬子陆块南部滇东被动陆缘碳酸盐岩台地,是铝成矿的有利区位,但一直未有突破性发现。近年来,基于1∶1万矿产地质调查,通过地表调查、剖面、探槽、钻探和综合研究等手段,笔者团队首次在滇东北大关太阳坝地区发现了一处大型铝土矿。矿体延伸相对稳定,厚度0.82~30.85 m,平均厚度2.14 m;矿石以硬水铝石为主,归属一水型铝土矿,就平均品位而言,w(Al_(2)O_(3))为59.03%、w(SiO_(2))为19.03%、铝硅比值(A/S)为4.36,估算资源量达到大型规模。矿床从成因上分为原生的沉积型(为主)和次生的堆积型,矿床展布主要受梁山组(P_(2)l)地层沉积时期沉积相带(滨岸沼泽相带)和新寨子向斜构造控制,与相邻的渝南—黔北成铝区具有相似的成矿条件。该发现表明大关地区为一聚铝盆地,从而拓展了上扬子陆块西缘成铝区范围。该项找矿突破势必带动周边铝土矿的勘查,为建设滇东北地区铝资源基地奠定基础,助推滇东北地区形成新的经济支柱产业,促进乡村振兴。

关键词：滇东北太阳坝地区喀斯特型铝土矿岩相古地理成矿规律成矿潜力

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具有高柔顺性液态金属桥接铝粉基热界面材料

宁波工程学院学报 2024年第3期36卷 1-8页

作者：庞云嵩李俊鸿杨敏曾小亮任琳琳许建斌孙蓉中国科学院深圳先进技术研究院深圳先进电子材料国际创新研究院广东深圳518100 香港中文大学电子工程系中国香港999077

为了解决热界面材料导热系数和柔顺性能在热界面材料中相互制约的问题,通过向聚二甲基硅氧烷/铝体系中引入液态金属,降低球形铝粉之间的接触热阻,提高了聚二甲基硅氧烷/铝的导热性能;同时,避免了高填料含量导致的柔顺性下降问题。制备... 详细信息

为了解决热界面材料导热系数和柔顺性能在热界面材料中相互制约的问题,通过向聚二甲基硅氧烷/铝体系中引入液态金属,降低球形铝粉之间的接触热阻,提高了聚二甲基硅氧烷/铝的导热性能;同时,避免了高填料含量导致的柔顺性下降问题。制备的聚二甲基硅氧烷/铝/液态金属热界面材料导热系数达到4.25 w·m^(-1)·K^(-1),柔顺性能表现优异(断裂伸长率高达164.9%,杨氏模量仅为174 kPa),与生物软体组织的力学性能类似。为满足高功率和大尺寸芯片(如CowoS晶圆级封装)的热界面材料的发展提供了一种新颖的思路。

关键词：热界面材料聚二甲基硅氧烷液态金属球形铝柔顺性

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