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  • 基于被引科学知识主题的突破性创新识别

    Subjects: Library Science,Information Science >> Information Science submitted time 2017-10-11 Cooperative journals: 《数据分析与知识发现》

    Abstract:【目的】在与基础研究密切相关的技术领域, 需要从专利信息中的被引科学知识主题内容出发识别突破性创新。【方法】抽取专利科学引文的关键词和学科分类表示被引科学知识; 在关键词共现网络和学科分类组合中识别被引科学知识的主题; 提出基于关键词和学科分类的主题突变程度计算方法, 遴选突变程度高的主题对应作为突破性创新发生的技术主题, 对突破性创新进行识别。【结果】在纳米电子学领域识别出已被证实为突破性创新的纳米电路相关主题, 即纳米导线、碳纳米管、可计算电路等纳米电路材料和制备主题, 并且是材料科学、化学、光学、生物学和应用物理等多学科交叉融会的结果, 验证了该方法的有效性。【局限】被引科学知识抽取、预处理和匹配准确率需要提高, 方法通用性还需在其他领域进行验证。【结论】该方法是基于专利信息识别突破性创新的重要完善和补充, 可扩展应用到其他与基础研究密切相关的技术领域中识别突破性创新。

  • 黄土高原地区极端气候指数时空变化

    Subjects: Geosciences >> Atmospheric Sciences submitted time 2021-02-13 Cooperative journals: 《干旱区地理》

    Abstract: 黄土高原生态环境脆弱,极端气候频发,越来越多的影响到人类的生产生活。通过基于 138 个气象站点观测资料,利用一元线性方程和 Mann-Kendall 法分析了黄土高原地区 27 个极端气 候指数的时空变化,得到以下主要结论:(1)极端气温指数中霜冻日数、冰冻日数、日最低气温的极 高值和冷持续日数在逐渐减少,生长季长度、夏季日数,热夜日数、日最高气温的极高值、暖持续日 数在逐渐增加。(2)极端气温指数中冷昼日数、冷夜日数、日最低气温极低值、日最高气温极高值、 气温日较差在子区域与全区变化趋势存在不同,主要表现在黄土塬区、黄土峁状丘陵区和石质山 地区。(3)极端降水指数变化趋势平缓,与多年均值接近。在空间分布上,除极强降水量、强降水量 和年均雨日降水强度在各子区域上与全区变化趋势一致外,其余指数在各子区域上与全区变化趋 势存在不同,主要表现在黄土塬和黄土梁状丘陵区。(4)多数极端气温指数的突变主要发生在 1980—1985 年和 2010—2015 年;多数极端降水指数的突变主要发生在 1985—1990 年和 2010— 2015 年。

  • Bacterial wilt resistance gene Slmlo1/6 mutants in tomato created by CRISPR/Cas9 technology

    Subjects: Biology >> Botany submitted time 2024-06-02 Cooperative journals: 《广西植物》

    Abstract: Bacterial wilt is a devastating soil-borne disease in tomato (Solanum lycopersicum) production. The pathogenic species are complex and tend to have a variation, while mlo caused by the recessive mutation of MLO genes has a broad-spectrum resistance. The previous study suggested that Slmlo1/6 may be involved in the resistance response to bacterial wilt in tomato. In order to further study the gene function of Slmlo1/6 in tomato bacterial wilt resistance, the genetic mutant plants were created by CRISPR/Cas9 technology and their phenotypes were identified followed. The results were as follows: ( 1 ) First, gRNA sequences of SlMLO1/6 were designed and assembled with the U6 promoters, then U6-gRNA1/6 fragments containing highly effective targets were ligated to CRISPR vector of pBGK via restriction enzyme Bsa I digestion, to construct the two-gene fusion knockout vector of pBGK-SlMLO1/6. The recombinant plasmid of pBGK-SlMLO1/6 was transformed into Escherichia coli DH5α competent cells and positive monoclonal clones were selected via plate cultivation. Using Agrobacterium tumefaciens GV3101 strains-mediated genetic transformation and resistance screening to hygromycin, a total of 9 edited tomato plants were obtained with the PCR and sequencing validation. ( 2 ) Target region sequencing showed that M2 and M8 plants had the 177 bp and 7 bp deletion of SlMLO1, respectively, M7 had the 12 bp deletion of SlMLO6, and M9 had a single base T insertion of SlMLO6. Except for 4 single gene homozygous mutants above, the other mutations were heterozygous. ( 3 ) RT-qPCR showed that compared with the wild type plant, SlMLO1/6 gene expression of the mutants was significantly decreased, especially M2, M7, and M8 plants. ( 4 ) Phenotypic identification indicated that SlMLO1/6 may be tomato bacterial wilt susceptibility genes. In a word, the knockout vector is successfully constructed for broad-spectrum resistance MLO genes and tomato transformation is also achieved. Further, a few homozygous gene edited plants acquire resistance to bacterial wilt to some extent. Amino acid deletion and frameshift mutation may be two crucial reasons for the gene function change of Slmlo1/6 in resistance. The results provide a theoretical basis and genetic engineering materials for the gene function study in resistance to bacterial wilt and disease resistance breeding in tomato.

  • The connection conditions of phase pressures and Darcy velocities at gas-water flood front in porous media

    Subjects: Mine Engineering Technology >> Development Engineering of Oil and Gas Well Subjects: Mechanics >> Hydromechanics submitted time 2020-12-25

    Abstract: Gas-liquid two-phase displacement are widely observed in oil and gas reservoir. The traditional seepage theory holds that the phase pressures and Darcy velocities must be continuous at the jump interface, and we have falsified them in previous studies. In this paper, the jump interface condition of two-phase seepage is extended from incompressible fluids to compressible. Taking gas-water displacement as an example, the new connection conditions of phase pressures and Darcy velocities at the gas-water displacement front in porous media were built. The results show that at the flood front, the global pressure is continuous, but not the fluid pressure are. (2) The total Darcy velocity can be discontinuous with a specific functional relationship;(3) The phase Darcy velocity of each phase of the fluid is discontinuous.

  • 一种罕见α-地贫基因HbH病(--SEA/α*92A>Gα)的家系分析与基因诊断

    Subjects: Medicine, Pharmacy >> Preclinical Medicine submitted time 2018-01-25 Cooperative journals: 《南方医科大学学报》

    Abstract: Objective To identify a rare α-thalassemia gene mutation in a family from south China and perform a pedigree analysis and genetic diagnosis of hemoglobin H (HbH) disease caused by this mutation. Methods Peripheral blood samples were collected from the family members for analysis of the hematological phenotype and routine test of thalassemia genes. DNA sequencing was carried out for samples that showed genotype and phenotype inconsistency. Results A rare α-thalassemia *92A>G gene mutation was detected within this family. The proband and his sister were confirmed to have non-deletional HbH disease with a--SEA/α*92A>Gα genotype. The proband's brother was confirmed to have an α-thalassemia trait with the genotype of-α3.7/α*92A>Gα. The proband's father was identified as an α-thalassemia silent carrier with the genotype of αα/α*92A>Gα. Conclusion A rare α-thalassemia *92A>G gene mutation was identified for first time in south China. The description of the basic phenotypic characteristics of α-thalassemia trait and silent carrier caused by this mutation enriches the α-thalassemia gene mutation spectrum in Chinese population and helps in population screening, clinical molecular diagnosis andgeneticcounseling.

  • A Study on the Identification Method of Paper Innovation Based on Mutation Index

    Subjects: Library Science,Information Science >> Information Science submitted time 2024-04-18

    Abstract: Purpose/Significance The aim is to construct a mutation index to measure the innovation of academic papers, providing a reference for improving the evaluation system of academic paper innovation. Method/Process A large language model (LLM), Mistral-openorca, is utilized to extract the research questions and methods from papers. The mutation index is constructed based on two dimensions: the similarity of research questions and methods to existing studies, and the extent to which they stimulate subsequent research. Result/Conclusion Papers with high innovation scores generally have a higher citation frequency; among the top 10 ranked papers by innovation, seven introduced original methods or tools, whereas papers in the bottom 10 ranked by innovation had more mature research topics and methods at the time of publication, with lower levels of innovation; the correlation coefficient between the innovation score of the papers and their citation frequency is 0.530, and empirical research results further confirm the effectiveness of the mutation index proposed in this paper in measuring the innovation of academic papers.

  • EMS 诱导红阳猕猴桃耐寒体的筛选及转录组分析

    Subjects: Biology >> Botany submitted time 2022-10-27 Cooperative journals: 《广西植物》

    Abstract: The Hongyang kiwifruit (Actinidia chinensis var. chinensis ‘Hongyang’) has a high economic and nutritional value and good prospects for market development. However, in recent years Hongyang kiwifruit production areas such as Yunnan and Sichuan have been subjected to extreme weather such as inversions on several occasions, and its poor cold resistance has limited its scope for development. In this study, ethylmethane sulfonate (EMS) was used to induce mutants of Hongyang kiwifruit in a tissue culture process, which led to the screening of cold-tolerant mutants and the investigation of their stress response mechanisms through transcriptome analysis. In this study, mutants were induced using EMS induction technology using Hongyang kiwifruit leaves as experimental material in tissue culture (4.4 g‧L-1 MS + 4.5 g‧L-1 agar + 1.5 mg‧L-1 6-BA + 0.1 mg‧L-1 NAA + 15g‧L-1 sucrose + 0.01-0.1 g‧L-1 EMS) and screened for cold-tolerant mutants under low temperature. Selected cold-tolerant mutants and normal Hongyang kiwifruit tissue culture seedlings were subjected to 4 oC 12 h cold stress treatment, while later, transcriptome sequencing analysis was performed. The results were as followed: (1) Some of the mutants induced by the 0.06 g‧L-1 EMS were phenotypically resistant to cold; (2) In the GO functional enrichment analysis of transcriptome sequencing data, the most enriched entries were in the biological processes; (3) The protein processing pathway (ath04141) in the endoplasmic reticulum was the most enriched, and sHSF, Hsp70, and NEF in this pathway may be related to the regulation of cold tolerance mechanisms. The above findings will provide a material basis and theoretical rationale for the research and utilization of cold-tolerant germplasm resources of Hongyang kiwifruit.

  • 人类线粒体肌酸激酶uMtCK的底物结合位点分析

    Subjects: Biology >> Bioengineering submitted time 2018-03-22 Cooperative journals: 《中国生物工程杂志》

    Abstract:研究人类线粒体肌酸激酶uMtCK的结合位点,将其与底物肌酸和ATP结合有关的关键氨基酸进行突变,并对突变体进行酶动力学和圆二色谱数据分析,探讨这些关键氨基酸在底物识别和催化过程中的作用。结果显示,与野生酶相比,突变体Q313A和R336A的 KmCr分别提高了2.6和2.9倍,kcat下降了19%和55%;同样地,与ATP结合相关的突变体R125A和R287A分别使得KmATP升高了3.2和4.2,kcat下降了72%和38%。以上结果表明突变体R125A、R287A、Q313A和R336A影响对底物的结合,同时也降低了酶促反应的速度。利用圆二色谱比较野生酶与不同突变体的二级结构并无明显变化,但进一步的结构模拟表明底物结合位点氨基酸在与底物之间的氢键对底物的识别和酶催化过程中发挥着重要作用。

  • Combined metabolome and transcriptome analyses reveal the albino mechanism of gold-coloured mutant leaves of Cyclobalanopsis gilva

    Subjects: Biology >> Botany submitted time 2024-06-02 Cooperative journals: 《广西植物》

    Abstract: In order to reveal the albino mechanism of gold-coloured mutant leaves of Cyclobalanopsis gilva, a naturally-occurring leaf-color mutant was used as experimental materials, and the metabolome and transcriptome of mutant leaves and normal green leaves were analyzed by UHPLC-Q Exactive HF-X and high-throughput RNA sequencing, respectively. The results were as follows: ( 1 ) 257 and 357 significantly changed metabolites ( SCMs ) were respectively identified under the positive ion mode and the negative ion mode. Compared with green leaves, the content of some flavonoids such as quercetin, leucoyanidin, myricetin and their derivatives (pyranodelphinin A, isorhamnetin 3-glucuronide, etc. ) increased significantly in mutant leaves, but the content of chlorophylls and carotenoids decreased significantly. ( 2 ) A total of 4 146 differentially expressed genes (DEGs) were detected, of which 1 711 were up-regulated and 2 435 were down-regulated. ( 3 ) KEGG enrichment analysis showed that SCMs and DEGs were mainly enriched in photosynthesis, porphyrin and chlorophyll metabolism and flavonoid biosynthesis. The research results indicate that inhibition of chlorophyll synthesis, chloroplast developmental abnormalities and promotion of flavonoid synthesis were the main factors driving the golden leaf coloration in the mutant C. gilva. In addition, the genes of the MYB and bHLH families were significantly up-regulated in mutant leaves, confirming these two types of transcription factors were involved in regulating flavonoid biosynthesis. This study provided new molecular insights into the phenomenon of leaf etiolation, and also provided reference for exploring leaf color-related functional genes and breeding of landscape plant.

  • 近60 a 哈密市极端气温时空变化特征

    Subjects: Geosciences >> Geography submitted time 2023-07-19 Cooperative journals: 《干旱区地理》

    Abstract:选取哈密国家气象基准站19612019年日最高与最低气温气象资料,采取一元线性回归法、10 a滑动平均、Mann-Kendall法、滑动t 检验和主成分分析法等方法对哈密市极端气温时空变化特征进行分析,为预测未来气温变化趋势,增强对极端气温事件的应对能力,减轻气象灾害对哈密市农业生产造成的危害提供一定依据。结果表明:(1)哈密市极端气温指数变化具有不对称性,冷暖指数变化相反,夜指数变暖幅度大于昼指数。季节上看,大部分极端气温指数在夏季、秋季变化幅度更大。(2)近60 a来哈密市极端低温事件频率显著降低,其中霜冻日数下降最为显著,下降幅度为-4.59 d(10a)-1;极端高温事件频率增加、强度显著增强;生长季度长与热持续指数变化幅度趋于一致,冷持续指数变化相反。(3)极端气温冷指数对气候变化更为敏感,突变发生在20世纪80年代中和90年代末,暖指数和持续指数突变时间为20世纪90年代末。(4)2个主成分累计方差贡献率为76.453%,极端气温事件变化与气温变暖相关性较高,冷暖指数呈负相关,冷夜日数、冷昼日数、霜冻日数、暖夜日数、暖昼日数是哈密市气温升高的主要因素。

  • 气候变化背景下1958—2017 年陕西省0 cm 地温时空变化特征

    Subjects: Geosciences >> Atmospheric Sciences submitted time 2021-09-14 Cooperative journals: 《干旱区研究》

    Abstract:利用陕西省1958—2017年18个气象观测站逐月0 cm地温和气温数据,结合线性回归、Mann-Kendall非参数检验、空间插值等方法,分析了陕西省0 cm地温时空变化趋势。结果表明:(1)近60 a来,陕西省年际及四季平均0 cm地温除夏季外均呈显著增加趋势(P<0.01),气候倾向率呈冬季[0.42 ℃·(10a)-1]>春季[0.38 ℃·(10a)-1]>年际[0.27 ℃·(10a)-1]>秋季[0.23 ℃·(10a)-1]>夏季[0.07 ℃·(10a)-1]的规律。(2)陕西省年际和四季平均0 cm地温均发生突变增温,主要集中在20世纪90年代后期,地温突变后较之前升温幅度为春季>冬季>年际>夏季>秋季。(3)陕西省年际及四季平均0 cm地温均表现为“南高北低”的空间分布特征,所有气象站点年际、春季和冬季地温及33%的站点夏季地温、83%的站点秋季地温呈现显著上升趋势(P<0.05)。(4)陕西省年际及四季地气温差除夏季外均呈上升趋势,其中气候倾向率呈冬季[0.17 ℃·(10a)-1]>春季[0.1 ℃·(10a)-1,P年际[0.07 ℃·(10a)-1,P秋季[0.02 ℃·(10a)-1]>夏季[-0.01 ℃·(10a)-1]的规律。(5)陕西省近60 a年均温及四季气温与0 cm地温均呈显著正相关关系,其显著性呈现秋季>春季>年>夏季>冬季的特点。

  • Spatiotemporal variation characteristics of sunshine hours in Qinghai Plateau from 1961 to 2020

    Subjects: Geosciences >> Atmospheric Sciences submitted time 2023-02-27 Cooperative journals: 《干旱区地理》

    Abstract: Solar radiation is the primary energy source of the earth’s system and is closely related to human life. By selecting the monthly sunshine hour data of 50 meteorological observation stations in the Qinghai Plateau of China from 1961 to 2020, the spatiotemporal variation characteristics of sunshine hours in the Qinghai Plateau as a whole, different latitudes, and different altitudes were analyzed. The results are as follows: (1) The annual sunshine hours in the Qinghai Plateau exhibit a significant downward trend from 1961 to 2020, and a sudden decrease occurred in 2004. From the perspective of spatial distribution, the annual sunshine hours in other regions showed a significant decreasing trend except that the sunshine hours in some southern stations is flat or slightly increased. And the decreasing trend is most significant in Qaidam area and eastern agricultural area. (2) The decreasing trend of sunshine hours in high-latitude areas is significantly greater than that in low-latitude areas of the Qinghai Plateau. The variation trend of sunshine hours at different latitudes in spring is small. In summer and winter, the decreasing trend of sunshine hours at relatively high latitudes is significantly greater than that at low latitudes, and in autumn, the decreasing trend of sunshine hours at low and high latitudes is significantly greater than that at middle latitudes. (3) The decreasing trend of annual sunshine hours in relatively low-altitude areas of the Qinghai Plateau is significantly greater than that in relatively high-altitude areas. The change trend of sunshine hours at different altitudes in spring is small, flat, or slightly reduced. The decreasing trend of sunshine hours at relatively low altitudes is significantly greater than that at higher altitudes in summer and winter. The sunshine hours at different altitudes in autumn exhibit a decreasing trend, but there is a significant difference in the decreasing trend.

  • 中国地级及以上城市对外开放度时空分异格局

    Subjects: Geosciences >> Other Disciplines of Geosciences submitted time 2018-10-23 Cooperative journals: 《干旱区地理》

    Abstract: 对外开放是推动中国经济改革与发展的重要机制和动力,是国家繁荣发展的必由之路。本文以中国343个地级及以上行政单元为研究对象,通过构建熵值—突变系统模型从3个维度测算对外开放度;运用探索性空间数据分析、三维插值拟合分析及重心迁移、空间变差函数等方法,分析中国地级单元对外开放度的时空分异格局及演化的内在机理。结果显示:(1)中国地级单元对外开放度表现出明显的行政指向性、空间地带性和开放区域性等多重分异特征。对外开放度整体呈现东部>中部>东北>西部,南方>北方的特征;直辖市、副省级城市、省会城市、经济特区及沿海开放城市整体对外开放水平较高,地级市间差异较大;10a间,对外开放度总体差异逐渐减小。(2)对外开放度存在明显的空间依赖性,表现为“小分散大集聚”的空间俱乐部趋同特征;10a间,开放型纹理分散程度趋于提升,闭塞型纹理集聚程度趋于收敛,高原型整体呈破碎化分布。(3)中国对外开放度格局变异的随机成分在逐渐减小,空间自组织性和连续性较为显著,东北—西南方向均质性最好,东南—西北方向空间差异明显。科学剖析地级单元对外开放度时空格局分异及演化机理,对制定合理的对外开放战略和促进外向型经济与区域经济双轨融合发展具有重要的意义。

  • 华氏巨球蛋白血症相关MYD88 L265P新型检测体系的建立

    Subjects: Biology >> Bioengineering submitted time 2018-07-06 Cooperative journals: 《中国生物工程杂志》

    Abstract:华氏巨球蛋白血症(Waldenström’s macroglobulinemia,WM)是一种罕见的,不可治愈的淋巴浆细胞淋巴瘤(lymphoplasmacytic lymphoma,LPL)。MYD88 L265P突变在华氏巨球蛋白血症患者中检出率很高(>90%),可以用于疾病的鉴别和诊断,因此,开发一种高灵敏度的检测方法对这个突变进行检测具有较大的临床价值。通过将ARMS技术与Clamping PCR技术相结合,建立的新型MYD88 L265P突变富集检测体系可以满足这一需求。优化后,该检测体系检出限为102拷贝,灵敏度为0.1%,对19份临床样品的双盲试验中,检测结果准确率达到100%。所建立的方法具有灵敏、准确的优势,适用于华氏巨球蛋白血症的早期诊断,有较为广阔的应用前景。

  • 2例汉族马凡综合征患者的 FBNBN1 基因新发

    Subjects: Medicine, Pharmacy >> Preclinical Medicine submitted time 2017-12-07 Cooperative journals: 《分子影像学杂志》

    Abstract: Objective To detect FBN1 mutation by screening FBN1 gene from 4 patients with Marfan syndrome(MFS)toinvestigate the correlation between the gene mutation and the MFS. Methods Genomic DNAs were extracted from wholeblood sample of the 4 patients. All 65 exons of FBN1 were amplified by polymerase chain reaction (PCR) followed by Sangersequencing analysis respectively. Results Two mutations of the FBN1 were found in 2 out of the 4 MFS patients respectively.One was a missense mutation of 7892G>A(C2631Y)and the other frame shift mutation of 6258del C, which producing apremature termination condon (PTC). Both of the mutations were not reported previously. Conclusion The 2 FBN1 genemutations are possibly the pathogenesis of the 2 MFS patients.

  • 青海省不同等级寒冷日数时空演变特征

    Subjects: Geosciences >> Geography submitted time 2024-06-12 Cooperative journals: 《干旱区研究》

    Abstract: Based on the daily minimum temperature measured at 42 meteorological stations in Qinghai Province from 1961 to 2019, the spatial and temporal evolution of different grades of cold days (extreme cold, extremely cold, severe cold, major cold, minor cold, light cold, slightly cold, cool) were analyzed. The results showed that: (1) From 1961 to 2019, the number of cold days in Qinghai Province gradually increased with decreasing levels, mainly dominated by slightly cold days. The total number of cold days showed an overall decreasing trend, with a significant rapid decrease occurring in 1995. The decrease in total cold days was mainly caused by the reduction in extremely cold days. After the climate abrupt change in 1997, the trends of severe cold, major cold, minor cold, light cold, slightly cold, and total cold days decreased, while the trend of extremely cold days increased. The trends of extreme cold and cool days decreased and increased respectively, with a distribution roughly equal. (2) Qinghai Province exhibits significant spatial differences in cold days, with the total number of cold days grad-ually increasing with altitude, and the trends of higher-level cold days are more pronounced. As the level of cold- ness decreases, the trends of increase and decrease develop towards lower latitudes and areas with relatively low-er altitudes. (3) The numbers of extreme cold, extremely cold, severe cold, light cold, slightly cold, and total cold days gradually decrease with increasing annual mean temperature, while the numbers of major cold, minor cold, and cool days gradually increase with increasing annual mean temperature. (4) Except for severe cold days, the numbers of other levels of cold days in Qinghai Province show persistence, and the downward trend will continue in the future, but the strength of persistence varies.

  • 异柠檬酸脱氢酶基因在软骨肉瘤中的 研究进展及展望

    Subjects: Medicine, Pharmacy >> Clinical Medicine submitted time 2023-07-26 Cooperative journals: 《中国全科医学》

    Abstract: Isocitrate dehydrogenase(IDH)is the more mutation-prone human metabolic gene. In the presence of nicotinamide adenine dinucleotide phosphate(NADPH),mutant IDH can bind to α-ketoglutaric acid(α-KG)and reduce it to 2-hydroxyglutaric acid(2-HG),participating in various biological processes of tumorigenesis. IDH has been widely studied in glioma and acute myeloid leukemia,and rarely in chondrosarcoma. Chondrosarcoma is prone to recurrence and metastasis due to the presence of high-frequency mutations in the IDH gene,and treatment options are limited after recurrence or metastasis, resulting in a poor prognosis for patients and an urgent clinical need to find new treatment options. This article reviews the role of IDH mutations in the development,prognosis,differential diagnosis and treatment of chondrosarcoma,further elaborates the biological role of IDH gene mutation in the occurrence and development of chondrosarcoma,and provides an outlook on the development of powerful IDH inhibitors and anti-cancer drugs,in order to provide a reference for the establishment of therapeutic regimen and prognostic evaluation.

  • Acquired unilateral renal atrophy caused by GREB1L gene mutation: a case report and literature review

    Subjects: Medicine, Pharmacy >> Clinical Medicine submitted time 2022-07-20 Cooperative journals: 《中国全科医学》

    Abstract: Objective To investigate the characteristics of acquired unilateral renal atrophy caused by GREB1L gene mutation. Methods The clinical data of a child with acquired unilateral renal atrophy was retrospectively analyzed, and the relevant literature was reviewed. Results This patient started with nephrotic syndrome (NS) when he was 2 years old. During the course of the disease, he developed progressive atrophy of the right kidney, which was caused by related examinations to exclude trigger factors. Whole genome sequencing showed that the GREB1L gene c.4688A was performed. >G heterozygous mutation, the mutation originated from the mother, this mutation is a rare mutation, and has incomplete penetrance characteristics, a variety of protein hazard prediction software predicts this mutation as a harmful mutation. Conclusion The discovery of a new GREB1L gene mutation site may expand the gene mutation spectrum and clinical spectrum associated with renal dysplasia.

  • Analyzing and Rebuilding Sharp Interface Conditions for Incompressible Two-Phase Flow in Porous Media

    Subjects: Mechanics >> Hydromechanics Subjects: Mine Engineering Technology >> Development Engineering of Oil and Gas Well submitted time 2022-05-12

    Abstract:

    Almost all the oil or gas reservoirs have sharp interfaces. The key to establish the corresponding mathematical flow model is to find the reasonable phase pressures and velocities connection conditions at the sharp interfaces. In the existing seepage mechanics theory, it is generally recognized that the velocity and pressure of each phase of fluid are continuous at the sharp interface (named CPVCM). However, we can find that CPVCM contradicts some other multiphase seepage phenomena or theories: (1) The saturation distribution of fluid in the real world does not always obey the fluids distribution rules that CPVCM required;(2) Near the flood front, CPVCM conflicts with Rankine-Hugoniot Interface Conditions;(3)It has been proved that the formula of phase fluxes across the sharp interface which are derived from CPVCM, harmonic average of transmissibility, possible give non-physical results in some cases, so that  they have been replace by single points upstream weighting method(SPU) and other high order method, such as TVD,ENO,WENO et al. . Therefore, we retraced the way that how to derive the CPVCM based on the mass conservation law in the early lectures, and find that the two particles on both sides of the interface which mentioned in the interface condition has been misplaced on the same interface, therefore, the proof process is essentially equivalent to preset the continuity of velocity and pressures of each phase and prove they are continuous. Such proof is invalid self-proof. Then, taking the incompressible two-phase fluids flow in the porous media as an example, the interface condition with discontinuous velocity and pressure of each phase (JPVCM) is obtained according to the same laws of mass conservation and two-phase Darcy’s law. Finally, it is suggested that, as for the incompressible two-phase flow in porous media, the jump conditions should be (1) total velocity of the two phases are equal, (2) the velocity of each phase at the sharp interface adopt the upstream ones.

     

  • Interface Connection Conditions Of Two-Phase Compressible Fluid At Immovable Jump Interface In Porous Media

    Subjects: Mine Engineering Technology >> Development Engineering of Oil and Gas Well Subjects: Mechanics >> Hydromechanics submitted time 2021-01-06

    Abstract: Jump interface in porous media exists widely in oil and gas reservoirs during development. The traditional seepage theory holds that the pressure and Darcy velocity are continuous at the discontinuous interface, and we have falsified them in previous studies. In this paper, taking gas-water phase as an example and considering the compressibility of the fluids, the connection conditions of phase pressures and Darcy velocities at the immovable jump interface are established. The results show that :(1) the total pressure is always continuous, but the phase pressure of each phase can be discontinuous;(2) The total Darcy velocity at the both sides are equal, but the phase Darcy velocity probably discontinuous;(3) The connection conditions of fixed jump interface do not comfort to Rankine - Hugoniot conditions, which are different from mobile jump interface, i.e. flood front.