简介：摘要目的探讨1例Rothmund-Thomson综合征(Rothmund-Thomson syndrome, RTS)患儿的临床表现和基因变异，明确其可能的致病原因。方法采集患儿及其父母、妹妹的外周血，对患儿进行全外显子组测序进行基因变异分析，并用Sanger测序方法对变异基因的家系分布进行验证。结果基因检测结果显示患儿RECQL4基因存在c.1048_1049delAG(p.Arg350fs*21)和c.2886-1G>A复合杂合变异，其中c.2886-1G>A为未见报道的新变异。根据美国医学遗传学与基因组学学会(ACMG)指南，c.1048_1049delAG判定为致病性变异(PVS1+PM3_Strong+PM2)，c.2886-1G>A考虑为可能致病性变异(PVS1+PM2)。结论RECQL4基因变异可能为这例RTS患儿的致病原因，本研究结果丰富了RECQL4基因变异谱。

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简介：Object:ToidentifytranscriptvariantsandexpressionpatternsofporcineMitf.Materialsandmethods:ApairwiseBLASTsearchatNCBIdatabasewasperformedtodeducethestructureofporcineMitfgene.Subsequently,50RACEandfluorescentquantitativeRT-PCRwereusedtoanalyzetheexpressionpatternofporcineMitfindifferenttissues.Results:FourtranscriptvariantsofporcineMitf,MITF-A,MITF-H,MITF-MandMITF-SUSwereidentified,allsharinghighhomologywiththoseinhumans,exceptMitf-SUS.Conclusion:ThesequenceofporcineMitfappearhighlyhomologoustohumanMITF.However,only4transcriptvariantsofporcineMitfwereidentifiedintheseminipigs,lessthanthe9transcriptvariantsinhumanMITF.

简介：Inthispaper,weprovethatforholonomicnonconservativedynamicalsystemthePoincareandPoincaré-Cartanintegralinvariantsdonotexist.Insteadofthem,weintroducetheintegralvariantsofPoincaréCartan’stypeandofPoincaré’stypeforholonomienoneonservativedynamicalsystems,andusethesevariantstosolvetheproblemofnonlinearvibration.Wealsoprovethattheintegralinvariantsintro-ducedinreferences[1]and[2]aremerelythebasicintegralvariantsgivenbythispaper.

简介：AbstractSevere acute respiratory syndrome coronavirus 2 (SARS-CoV-2) continues to evolve, generating new variants that pose a threat to global health; therefore, it is imperative to obtain safe and broad-spectrum antivirals against SARS-CoV-2 and its variants. To this end, we screened compounds for their ability to inhibit viral entry, which is a critical step in virus infection. Twenty compounds that have been previously reported to inhibit SARS-CoV-2 replication were tested by using pseudoviruses containing the spike protein from the original strain (SARS-CoV-2-WH01). The cytotoxicity of these compounds was determined. Furthermore, we identified six compounds with strong antagonistic activity against the WH01 pseudovirus, and low cytotoxicity was identified. These compounds were then evaluated for their efficacy against pseudoviruses expressing the spike protein from B.1.617.2 (Delta) and B.1.1.529 (Omicron), the two most prevalent circulating strains. These assays demonstrated that two phenothiazine compounds, trifluoperazine 2HCl and thioridazine HCl, inhibit the infection of Delta and Omicron pseudoviruses. Finally, we discovered that these two compounds were highly effective against authentic SARS-CoV-2 viruses, including the WH01, Delta, and Omicron strains. Our study identified potential broad-spectrum SARS-CoV-2 inhibitors and provided insights into the development of novel therapeutics.

简介：雄激素受体(AR)调停了雄激素行动提供在男开发和功能的不仅一个古典枢轴的角色而且在女繁殖生理学的一个最近证明的角色。拼接AR的变体被报导发生在各种各样的雄激素敏感的癌症和现在，由王等的最近的研究。建议AR拼接变体在polycystic卵巢症候群(PCOS)有一个etiological角色。尽管进一步的调查被要求充分估价他们的发现的意义，这些精液的调查结果为在在PCOS的起源和致病发信号的AR的角色的理解打开新章有令人激动、重要的含意。

简介：切开的修改Hermitian和skew-Hermitian(MHSS)重复方法被黄雾，Benzi和陈介绍并且学习(计算，87(2010)，93-111)为解决复杂对称的线性系统的一个类。在这份报纸，用Toeplitz矩阵的性质，我们为解决复杂Toeplitz建议结构化的MHSS重复方法的一个班线性系统。理论分析证明结构化的MHSS重复方法对准确答案无条件地会聚。当MHSS重复方法直接被使用到复杂对称的Toeplitz线性系统时，计算费用能被Toeplitz结构的使用体谅地减少。最后，数字实验证明结构化的MHSS重复方法和结构化的MHSSpreconditioner为解决复杂Toeplitz是有效的线性系统。[从作者抽象]

简介：AIM:ToelucidatethemolecularmechanismsunderlyinghepatitisBvirus(HBV)occultinfectionofgenotypeC.METHODS:Atotalof10typesofhepatitisBsurfaceantigen(HBsAg)variantsfromaKoreanoccultcohortwereused.AfteracompleteHBVgenomeplasmidmutatedsuchthatitdoesnotexpressHBsAgandplasmidencoding,eachHBsAgvariantwastransientlyco-transfectedintoHuH-7cells.ThesecretioncapacityandintracellularexpressionoftheHBVvirionsandHBsAgsintheirrespectivevariantswereanalyzedusingreal-timequantitativepolymerasechainreactionassaysandcommercialHBsAgenzyme-linkedimmunosorbentassays,respectively.RESULTS:AllvariantsexhibitedlowerlevelsofHBsAgsecretionintothemediumcomparedwiththewildtype.Inparticular,ineightofthetenvariants,verylowlevelsofHBsAgsecretionthatweresimilartothenegativecontrolweredetected.Incontrast,mostvariants(9/10)exhibitednormalvirionsecretioncapacitiescomparablewith,orevenhigherthan,thewildtype.ThisprovidednewinsightintotheintrinsicnatureofoccultHBVinfection,whichleadstoHBsAgsero-negativenessbuthashorizontalinfectivity.Furthermore,mostvariantsgeneratedhigherreactiveoxidativespeciesproductionthanthewildtype.ThisfindingprovidespotentiallinksbetweenoccultHBVinfectionandliverdiseaseprogression.CONCLUSION:ThepresentlyobtaineddataindicatethatdeficiencyinthesecretioncapacityofHBsAgvariantsmayhaveapivotalfunctionintheoccultinfectionsofHBVgenotypeC.

简介：Objective:RecentevidenceindicatesthatdysregulationofmicroRNA(miRNA)biogenesisisimplicatedincancerdevelopmentandprogression.BasedontheimportantroleofmiRNAbiogenesisgenesincarcinogenesis,wehypothesizedthatgeneticvariationsofthemiRNAbiogenesisgenesmaymodulatesusceptibilitytocervicalcancer.Methods:Weidentifiedthreesinglenucleotidepolymorphisms(SNPs)locatedinthe3’-untranslatedregions(3’-UTR)ofofmiRNAbiogenesiskeygenes(rs1057035inDICER,rs3803012inRANandrs10773771inHIWI)andgenotypedtheseSNPsinacase-controlstudyof1,486cervicalcancercasesand1,549cancer-freecontrolsinChinesewomen.Results:LogisticregressionanalysesshowedthatnosignificantassociationswereobservedbetweenthethreeSNPsandcervicalcancerrisk[rs3803012inRANAG/GGvs.AAadjustedOR=1.104,95%confidenceinterval(CI):0.859-1.419;rs1057035inDICERCT/CCvs.TTadjustedOR=0.962,95%CI:0.805-1.149;rs10773771inHIWICT/CCvs.TTadjustedOR=0.963,95%CI:0.826-1.122].Conclusions:Thefindingsdidnotsuggestthatgeneticvariantsinthe3’-UTRofRAN,DICERandHIWIofmiRNAbiogenesisgeneswereassociatedwiththeriskofcervicalcancerinthisChinesepopulation.

简介：AbstractSince severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) was first identified during late 2019, the sustained spread of this pathogen within the human population has caused worldwide disruption with staggering infection rates and death tolls. Due to the accumulation of mutations in SARS-CoV-2, the virus has evolved into many variants, five of which have been listed as variants of concern VOCs by the World Health Organization (WHO). Multiple animal models of SARS-CoV-2 have been developed to evaluate vaccines and drugs and to assess the pathogenicity, transmissibility and antiviral measures of these VOCs. Here, we review the cutting-edge research based on mouse, hamster, ferret and non-human primate models for evaluating SARS-CoV-2 with a focus on the Omicron variant, and highlight the importance of updating vaccines in a timely manner in order to mitigate the negative effects of SARS-CoV-2 infections in the human population.

简介：AbstractIntroduction:The gap junction beta 6 (GJB6) gene encodes connexin 30. This protein plays critical role in tissues and is responsible for the formation of gap junctions, which have a wide variety of physiological functions. Disease-associated variants of GJB6 cause non-syndromic hearing loss (HL) and skin lesions.We herein describe a Turkish girl who was diagnosed with HL and in whom genetic analysis revealed a causal variant of GJB6.Case presentation:The 1-year-old girl patient was diagnosed with bilateral HL when she was 1 month old. Apart from this, the patient’s motor/mental development and physical examination were normal. As a result of the analysis with the multi-gene panel, the causative genomic change, c.175G>A(p.Gly59Arg) in the GJB6 gene was determined as heterozygous. Segregation analysis proved the same genotype in the patient’s mother and grandfather. The patient’s mother and grandfather had bilateral HL and palmoplantar hyperkeratosis phenotype. The patient was diagnosed with Clouston syndrome, and genetic counseling was provided to her family.Discussion:Causal variants of GJB6 cause skin manifestations and signs of HL. Molecular diagnosis of these patients is a valuable tool for clinicians in reaching their optimal treatment and clinical management.Conclusion:In syndromic cases in which many organs are affected, the determination of the causative gene is important in directing the patients to appropriate observation, screening, and treatment strategies.

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简介：AbstractThe novel betacoronavirus (Severe Acute Respiratory Syndrome Coronavirus 2, SARS-CoV-2) is a pathogen that causes deadly respiratory disease named coronavirus disease 2019 (COVID-19). The incidence of this disease has increased in the last few months affecting 257,832,881 people in 221 countries and 51,68,069 deaths worldwide according to Worldometer at 04:03 GMT on November 22, 2021. Thus, the emergence of this disease creates a challenge for health care providers in handling this pathogen and reducing its risk of transmission. In developing countries, this virus is treated in biosafety level 2 laboratories, where a high concentration of pathogen can easily affect the laboratory staff and cause the spread of this disease. Based on the epidemiology and characteristics of the SARS-CoV-2 virus already discussed in recent studies, we will provide biosafety guidelines and suggestions for safe handling and transportation of the SARS-CoV-2 virus in dealing with the current pandemic situation with a focus on increased infectivity of emerging new variants.

简介：Osteopontin(OPN)，多功能的glycoprotein，有在vitro在肿瘤有不同角色的三个抄本。OPN抄本是否在vivo在肿瘤进程有不同函数，是不清楚的。有免疫力的导出房间的OPN能支持肿瘤形成，这被报导了。我们建议导出肿瘤的OPN可以便于的一个假设由影响有免疫力的房间区别和功能的肿瘤免疫者逃跑。在这研究，我们构造了OPN抄本和transfected的lentiviral表示向量他们进MCF-7房间线。有OPN抄本的MCF-7房间transfected被注入裸体老鼠的腋窝，并且肿瘤生长被监视。结果证明所有OPN抄本支持了本地肿瘤形成，而是那在抄本之中没有重要差别。我们也调查了coculturing单核白血球肿瘤房间与肿瘤上层清液在单核白血球区别上表示的OPN的效果。我们与OPN相比发现OPN-cupregulatedCD163层次--andOPN-b；然而，任何一个都没抄本影响HLA医生和CD206层次。所有OPN抄本显著地禁止了TNF-α；并且由单核白血球提高了IL-10生产。而且，我们发现了OPN抄本的overexpression显著地upregulatedTGF-β；1并且由肿瘤房间的MCP-1生产。用抵销抗体和recombinantcytokines，我们发现由肿瘤房间的OPNoverexpressed调整TNF-α的生产；并且由单核白血球的IL-10部分经由MCP-1和TGF-β；1分别地。一起，我们的结果证明OPN抄本没在vivo在乳癌形成有不同角色。我们也证明OPN经由TGF-β调整单核白血球的其他的激活；1并且MCP-1，它可以为肿瘤代表另外的机制免疫者逃跑。

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简介：［1］BASFUSP4479906［2］BASFBP1443541［3］BASFDE3618265［4］WangL.,WuZ.,ChinaLeather,26(8),11,(1997)［5］YuanL.,DinY.,ChineseChemistryBulletin,(2),19(1988)［6］KurokiH.,ChemistryofDyeingTheory(ChineseTranslation),TextileIndustryPress,Beijing,89(1982)［7］WangS.,LiP.,WuZ.DyestuffIndustry(Chinese),34(4),1,(1997)［8］Tian,Y.,Wu,Z.,Wang,G.,Zhang,S.J.ChineseChem.Eng.,46,156(1995)［9］Tian,Y.,Wang,G.,Wu,Z.,J.ChineseChem.Eng.,47,75(1996)［10］Lycka,A.,DyesandPigment,32,11(1996)［11］Griffith,J.,ColourandConstitutionofOrganicMolecules,AcademicPress,London,191(1976)

简介：AbstractObjective:To investigate the association of rs5210 in potassium voltage-gated channel subfamily J member 11 (KCNJ11) with gestational diabetes mellitus (GDM).Methods:Six hundred and thirty-two uncorrelated pregnancy females were recruited in Tongji hospital from October 2017 to June 2018, in which 241 pregnant women were identified as GDM, and 391 were non-GDM. All the pregnant women recruited in this study their peripheral venous blood of 5 mL were withdrawn, and DNA in the blood was extracted. rs5210 in KCNJ11 were genotyped using TaqMan Assays and genotype models were analyzed using logistic regression analyses.Results:After adjusting age and body mass index, the variant genotypes of rs5210 in genotype models were as follows: P for dominant model was 0.945, (odd ratio: 0.987, 95% confidence intervals (CI): 0.681-1.430); P for recessive model: 0.556, (odd ratio: 1.217, 95% CI: 0.633-2.343) and P for addictive model was 0.098 (genotype AA vs. GG), (odds ratio: 1.435, 95% CI: 0.936-2.201). Weight-gain during pregnancy and total cholesterol were significantly different in recessive model (P= 0.015, P= 0.022, respectively) of all participants.Conclusion:No significant association between gene susceptibility of rs5210 in KCNJ11 and GDM occurrence in Chinese pregnant women. But the variant of rs5210 was associated with weight-gain during pregnancy and total cholesterol blood levels. However, more cases are needed in genetic study to check its susceptibility with GDM occurrence in Chinese women.

简介：РоссийскийспортвгодыВеликойОтечественнойвойныИзвестныйнамкомплексГТО1нетолькопомогалкрепитьобороннуюмощьСССР,ноиоткрывалфеноменальныеспортивныеталанты.

简介：摘要：社会的发展、进步离不开交流，英语是通用的国际交际工具，英语的应用遍及很多领域，因此，在小学开设英语更是时代之所需、具有一定的科学性。其一，语言学习需要时间磨练，小学阶段学习任务轻、课业负担少，能给生学习英语提供充裕的时间。其二，小学阶段的孩子有着大部分成年人等无与能比的优越学习条件：“小学阶段的孩子好奇心强、记忆力好、模仿能力强、可塑性强”。

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