Prenatal diagnosis of Pallister-Killian syndrome and literature review

Pallister-Killian syndrome (PKS) is a rare sporadic genetic disorder usually caused by mosaicism of an extra isochromosome of 12p (i(12p)). This retrospective study analysed the prenatal ultrasound manifestations and molecular and cytogenetic results of five PKS foetuses. Samples of amniotic fluid and/or cord blood, skin biopsy and placenta were collected. Conventional karyotyping and single nucleotide polymorphism array (SNP array) were performed on all the amniotic fluid or cord blood samples. Copy number variants sequencing (CNV-seq) and fluorescence in situ hybridization (FISH) were also used for the validation for one foetus. All the five foetuses were from pregnancies with advanced parental age. Two foetuses involved structural abnormalities and one foetus had only soft markers, all of which included increased nuchal translucency. The rest two foetuses had normal ultrasounds in the second trimester, which has rarely been reported before. The karyotype revealed typical i(12p) in four cases and a small supernumerary marker chromosome consisting of 12p and 20p in the remaining one case. The proportion of cells with i(12p) ranged from 0 to 100% in cultural cells, while SNP array results suggested 2−4 copies of 12p. For one foetus, metaphase FISH showed normal results, but the interphase FISH suggested cell lines with two, three and four copies of 12p in the amniotic fluid. Advanced parental age may be an important risk factor for PKS, and there were no typical ultrasound manifestations related to PKS. A combination of karyotype analysis and molecular diagnosis is an effective method for the diagnosis of PKS.     

多功能农业景观:内涵、进展与研究范式

多功能农业景观是景观尺度下农业多功能性的空间表征，具有生物多样性保护、田园风光留存和地域文化传承等多种重要的非经济功能。构建多功能农业景观是促进区域农业可持续发展与人类福祉提升的重要途径，同时也是多学科交叉的综合性研究。在已有景观生态学研究范式的基础上，探讨了多功能农业景观的内涵和国内外相关研究进展，并提出了"格局-功能-需求-管理"的多功能农业景观研究范式。与此同时，绘制了新研究范式的概念框架，通过划分四大研究模块具体分析了如何基于新研究范式开展多功能农业景观的构建、评价和管理等工作。本研究为实现区域农业景观的可持续发展和阐明多功能农业景观的内在运行机制奠定理论基础提供支持，为乡村生态景观营造关键问题的解决与多功能农业景观的实际构建提供帮助。     

嗅觉受体在非嗅觉组织和细胞中的作用及其机制

嗅觉受体(olfactory receptor)不仅表达在鼻腔中,还广泛表达在全身其他部位,起着重要的生理作用.本文综述了非嗅觉组织和细胞中表达的嗅觉受体及其功能,这些嗅觉受体通过调控细胞周围的内源性化学物质,维持正常的生理功能,并且能在选定的外源性配体刺激下,表现出特定的功能.在医药领域,大约有40%上市药物的作用靶点都来自于G蛋白偶联受体(GPCR)家族,而嗅觉受体是GPCR中最大的基因家族,鉴于其表现出的重要作用,我们推测这些嗅觉受体可能成为未来重要的药物靶标.本文对非嗅觉组织和细胞中嗅觉受体功能的综述,一方面有利于将其作为潜在药物靶点,开发新的药物,另一方面也为中药中挥发性单体的药理作用提供了新的研究思路.     

混交对亚热带针叶树根际土壤氮矿化和微生物特性的影响

混交阔叶树是退化红壤区针叶林改造的重要措施之一，土壤养分供应和转化是评价混交效应的重要参数，但混交后针叶树根际土壤氮矿化特征及其影响因素还不清楚。选取退化红壤区马尾松（Pinus massoniana Lamb.）纯林、湿地松（Pinus elliottii Engelmann）纯林及其补植木荷（Schima superba Gardn.et Champ.）形成的马-木混交林和湿-木混交林为研究对象，采集4种林分下针叶树根际土壤，测定速效养分含量、氮矿化速率、氮水解酶活性和微生物磷脂脂肪酸含量，探究混交对针叶树根际土壤氮供应及微生物特性的影响，分析土壤氮矿化和微生物特性间的相关性。结果表明：混交显著增加了针叶树根际土壤铵态氮，矿质氮和有效磷含量，而对硝态氮影响不显著。根际土壤氮矿化以硝化作用为主，混交后针叶树根际土壤氨化速率降低了27.0%，硝化速率增加了55.4%，而最终净氮矿化速率增加了24.1%。两个树种间，马尾松根际土壤矿质氮含量和净氮矿化速率显著高于湿地松。针叶树根际土壤真菌、丛枝菌根真菌，总微生物生物量及真菌/细菌比在混交后显著增加，且马尾松根际土壤总微生物和真菌生物量分别比湿地松高18.9%和27.0%。同时，针叶树根际土壤β-N-乙酰氨基葡萄糖苷酶活性在混交后显著增强，且根际土壤硝化速率和净氮矿化速率与微生物指标和酶活性正相关。总的来说，混交阔叶树显著提高了针叶树根际土壤氮供应，以此应对阔叶树混交后带来的养分竞争压力，而马尾松倾向于积极性的应对策略，通过增加土壤氮矿化以适应外界环境改变。     

Overexpression of Tau Downregulated the mRNA Levels of Kv Channels and Improved Proliferation in N2A Cells

Microtubule binding protein tau has a crucial function in promoting the assembly and stabilization of microtubule. Besides tuning the action potentials, voltage-gated K⁺ channels (Kv) are important for cell proliferation and appear to play a role in the development of cancer. However, little is known about the possible interaction of tau with Kv channels in various tissues. In the present study, tau plasmids were transiently transfected into mouse neuroblastoma N2A cells to explore the possible linkages between tau and Kv channels. This treatment led to a downregulation of mRNA levels of several Kv channels, including Kv2.1, Kv3.1, Kv4.1, Kv9.2, and KCNH4, but no significant alteration was observed for Kv5.1 and KCNQ4. Furthermore, the macroscopic currents through Kv channels were reduced by 36.5% at +60 mV in tau-tranfected N2A cells. The proliferation rates of N2A cells were also improved by the induction of tau expression and the incubation of TEA (tetraethylammonium) for 48 h by 120.9% and 149.3%, respectively. Following the cotransfection with tau in HEK293 cells, the mRNA levels and corresponding currents of Kv2.1 were significantly declined compared with single Kv2.1 transfection. Our data indicated that overexpression of tau declined the mRNA levels of Kv channels and related currents. The effects of tau overexpression on Kv channels provided an alternative explanation for low sensitivity to anti-cancer chemicals in some specific cancer tissues.     

基于享乐价格-结构方程双模型的西宁城市湿地生态系统服务价值及影响因素研究

湿地为城市发展提供巨大的生态系统服务，但其被市场“认可”的经济价值难以准确评估。以青海省西宁市城市湿地为例，筛选房屋结构、可达性、环境、湿地等10个因子，采用享乐价格模型对110个湿地周边社区样点的因子数据(2020年)进行分析，定量分析城市湿地被市场“认可”的价值量。采用断裂点理论和加权Voronoi图模型方法等，分析了湿地生态系统服务价值的空间影响范围；构建了湿地生态系统服务价值影响因素的结构方程模型，探究了影响湿地生态系统服务价值的主要因素。结果表明：(1)2020年湟水城市湿地的总价值达到3.367亿元，约有54.3%的生态系统服务通过房产被市场转化；(2)湟水湿地单位面积的生态系统服务价值为151.916元/m~2,生态系统服务价值由大到小排列：火烧沟(1.632亿元)>海湖湿地(0.710亿元)>宁海湿地(0.629亿元)>北川湿地(0.330亿元);(3)湿地生态系统服务价值占房产总价值的比例达到2.04%,位列10个因素中的第7位；线性函数模型结果显示，购买者对湿地的边际支付意愿是0.12元/m~2,即购买者愿意为房产与湿地之间的距离每缩小1m而多支付...     

基于环境库兹涅茨曲线的我国大气污染防治重点区域环境空气质量与经济增长关系研究

改革开放以来，中国经济迅猛发展，但大气污染等环境问题日益突出。进入21世纪，我国通过颁布实施多项大气污染防治政策，将京津冀及周边地区、长三角地区、珠三角地区等大气污染较严重的区域划定为重点区域，针对性制定治污措施和实施减排工程，努力推动区域环境空气质量改善。基于2000-2019年我国31个省（自治区、直辖市）（以下简称31个省份）GDP，以及SO₂、PM₁₀、NO₂三项大气污染物浓度数据，利用环境库兹涅茨曲线（EKC，Environmental Kuznets Curve）模型，对31个省份和京津冀及周边地区、长三角地区、珠三角地区的经济增长情况、大气污染物浓度演变以及二者之间的关系进行了系统全面的分析评估。研究结果显示：（1）近年来实施的各项大气污染防治政策，特别是2013年以来颁布实施的《大气污染防治行动计划》《打赢蓝天保卫战三年行动计划》，推动环境空气质量改善的同时，促进了经济发展与环境保护长期关系协调性逐步增强，除NO₂浓度呈U型外，31个省份SO₂浓度、PM₁₀浓度与人均GDP的EKC曲线呈倒U型和倒N型，并处于快速下降阶段。（2）京津冀及周边地区SO₂浓度与人均GDP呈倒U型，且处于快速下降阶段；PM₁₀和NO₂浓度均呈现U型关系，且均处于上升期。（3）长三角地区SO₂、PM₁₀浓度与人均GDP呈现倒U型和U型，但均处于下降阶段；NO₂浓度与人均GDP无相关关系。（4）珠三角地区SO₂、PM₁₀和NO₂浓度与人均GDP均呈现倒U型关系，且均处于下降阶段。为此，建议"十四五"期间我国政府要继续实施新一轮的大气污染防治行动计划，聚焦机动车NO_x污染管控，大力推动NO₂浓度稳步下降，以实现我国环境空气质量持续改善，为统筹经济高质量发展和生态环境高水平保护奠定坚实基础。