简介:为了在不同发育阶段调查织物transglutaminase活动,叶子和米饭的年轻圆锥花序的变化,从Honglian-typecytoplasmic不育系,YuetaiA和它的维护者线被切除,YuetaiB分别地。为在米饭的织物transglutaminase活动察觉的一个ELISAmeasurement协议很好被建立。结果显示织物transglutaminase活动被钙阳离子,和织物transglutaminase活动在衰老的叶子断然调整在年轻叶子比那显著地高。没有不同差别在YuetaiA和YuetaiB之间被注意。而且,从四个起核心作用到双性人织物transglutaminase活动逐渐地增加了的阶段年轻圆锥花序发展并且直到在双性人的最大值的withtheprogression起核心作用在YuetaiA.However的舞台,没有类似的变化在YuetaiB被观察。这显示tissuetransglutaminase涉及房间在败育花粉的规划死亡。
简介:在四川省的Liangshan府,中国,有HIV感染的高流行,它在从注射药使用(IDU)的传播的模式的一个变化是反射的到异性爱的交际。然而,很少研究在多数Yi人口之中集中于HIV相关的异性爱的风险行为。这研究的目的是探索一个利已的性网络的特征并且估计随便性行为的流行。Yi村民(n=108)15-35年,报导了的人,在上一年以内性交至于他们的性行为和网络被会见。深入的会见和焦点组讨论在性标准上提供了增补信息。逻辑回归分析被用来计算unadjusted机会比率(ORs)和95%;信心间隔(CI)。大多数回答者报导了在他们的生活,和66.7%在一些时间有随便性别;报导多重性合伙。仅仅21.3%;曾经报导了使用了避孕套。在学习年期间,137个搭挡的一个总数涉及153性合伙。在报导性合伙之中,67.3%;从一种随便性关系发源。为在尺寸≥的部件的网络成员;3,56.9%;涉及并发的性合伙。从来没结婚了过(或:2.11;95%;CI:1.03-4.33)并且更年轻的年龄(或:0.89;95%;CI:0.83-0.95)两个都与在尺寸≥的一个部件被联系;3。尺寸(或:2.99;95%;CI:1.17-7.66),对(或:0.54;95%;CI:0.39-0.74),利已的性网络的弱部件的数字(或:30.04;95%;CI:6.47-139.46)并且性(或:0.19;95%;CI:0.06-0.67)都与在并发的性合伙被联系。为在四川省的Yi种族少数的HIV相关的干预必须因此探讨并发的性合伙并且支持避孕套使用。
简介:Background:Althoughemergingresearchisdemonstratingthepotentialhealthimpactofexergaming,investigationshaveprimarilybeenconductedinlaboratorysettingsamongsmallsampleswithshort-terminterventions.Informationontheeffectivenessofexergaminginunderservedchildren’sobjectivephysicalactivity(PA)inpopulation-basedsettingsisalsoscarce.Moreover,mostempiricalstudieshaveonlyincluded1typeofexergameintheintervention.Therefore,thisstudy’spurposewastoinvestigatethelong-termimpactofamultigameexergaminginterventionamongunderservedchildrenintegratedwithinschoolcurricula.Specifically,thisstudyexaminedtheeffectofexergamingonchildren’saccelerometer-determinedsedentarybehavior(SB),lightPA,moderate-to-vigorousPA(MVPA),andenergyexpenditure(EE)over2yearsascomparedwithregularphysicaleducation(PE)classes.Methods:Atotalof261second-andthird-gradechildren(134girls,127boys;meanage8.27years)wererecruitedfrom2Texaselementaryschools.Children’spre-test3-daySB,lightPA,MVPA,andEEatschoolwereassessedinthefallof2012.Participantswereassignedto1of2groups:(1)exergaming/PEgroup(125minweeklyofexergaming-basedPAprogram)and(2)comparisongroup(125minweeklyofPE).PA(SB,lightPA,andMVPA)andEEoutcomevariableswereassessedagainin2013(post-test)and2014(follow-up).Results:SignificanttimeeffectswereobservedforSB(F(1,162)=25.0,p<0.01,η~2=0.14),lightPA(F(1,162)=9.6,p<0.01,η~2=0.06),andMVPA(F(1,162)=6.2,p=0.01,η~2=0.04)butnotforEE(F(1,162)=0.63,p>0.05,η~2=0.004).Subsequentpairwisecomparisonsrevealedsignificantincreasesfrompre-topost-testforlightPA(p<0.01),MVPA(p<0.01),andEE(p=0.02)withnochangesinSB(p>0.05).Conversely,significantdecreasesoccurredinlightPA(p<0.01)frompost-testtofollow-upwithnodifferencesseeninMVPA(p=0.08)andEE(p=0.06)overthesametimeperiod.Asignificantincreasewasseen,however,forSBfrompost-testtofollow-up.Conclusion:Exergami
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简介:<正>FromOctober14to23,2014,CAFIUsuccessfullyhostedthe1stChina-US-EuropeYoungLeadersExchangeProgram.TargetedatyoungleadersfromChina,theUSandEuropewithafocusonpolitical,economicandculturalexchanges,thisprogramhasselectedBeijingandGuangdongtomakefieldvisitsintheformsofthemedtalks,
简介:AbstractObjective:In contrast to the most commonly reported forms of maturity-onset diabetes of the young (MODY), including MODY2, MODY3 and MODY5, MODY6 is a relatively rare subtype. To investigate whether NEUROD1 is responsible for MODY in Chinese individuals, we screened its mutations in MODY pedigrees and explored the potential pathogenic mechanisms.Methods:Polymerase chain reaction direct sequencing was performed to screen NEUROD1 mutations in 32 Chinese MODY probands who were negative for the GCK/MODY2, HNF1A/MODY3 and HNF1B/MODY5 genes in this observational study. In addition, we enrolled 201 unrelated, non-diabetic control subjects of Han Chinese descent. The functional significance of newly identified mutations was analyzed using clinical phenotype, pathophysiology and three-dimensional structure studies. This study was approved by the Institutional Review Board of Shanghai Jiao Tong University Affiliated Sixth People’s Hospital, China (approval No. YS-2017-83) on March 3, 2017.Results:E59Q (c.175 G>C, p.Glu59Gln), a heterozygous missense mutation in the NEUROD1 gene, was identified in one family with MODY. The Glu59 residue in NeuroD1 is highly conserved across mammalian species. Four diabetic patients carrying the mutation (a proband and her son, brother and sister) were lean, with a body mass index of 20.9 (20.3-21.2) kg/m2. Compared with their unaffected relatives (n= 4), E59Q carriers (n= 4) had significantly decreased ratios of fasting and 2-hour insulin to plasma glucose (both fasting plasma insulin/fasting plasma glucose and 2-hour postprandial plasma insulin/2-hour postprandial plasma glucose, P < 0.005). The proband’s father had an E59Q mutation and normal glucose tolerance, which suggested non-penetrance. The E59Q mutation was not detected in other probands or in the 201 control subjects with normal glucose tolerance. Two salt-bridge bonds of Glu59 were disrupted at the Q59 mutation site.Conclusion:The NEUROD1-E59Q mutation changed the molecular conformation of the N-terminal in NeuroD1, which may decrease binding of the E59Q mutant to the insulin promoter and insulin gene transcription activity, therefore causing the MODY6 subtype with defective insulin secretion.
简介:摘要对2018年9月湖南省妇幼保健院就诊的1例临床表现为"全面发育迟缓8年合并特殊面容"患儿的临床特点及基因检测结果进行回顾性分析。综合患儿临床表现及其高通量测序基因检测结果确诊为典型Say-Barber-Biesecker/Young-Simpson综合征(SBBYSS)。该患儿的基因检测结果提示KAT6B基因(NM_012330.3)c.3147G>A(p.P1049P)杂合同义突变,该同义突变导致产生新的剪切位点(受体),从而使得16号外显子5′-端127个碱基丢失,形成新的截短蛋白。这是迄今为止我国首例明确基因诊断并进行产前诊断的典型SBBYSS家系,其突变扩宽了中国人群KAT6B基因突变导致SBBYSS的突变谱,并为家系后续产前诊断提供了可靠的理论依据。
简介:摘要目的对1例Say-Barber-Biesecker-Young-Simpson综合征患儿的KAT6B基因变异进行分析,明确其可能的致病原因。方法提取患儿及双亲外周血DNA,应用全外显子基因组测序法检测相关基因变异,并通过Sanger测序法验证可疑变异,对其进行生物信息学预测。结果全外显子基因组测序结果显示患儿KAT6B基因第13外显子存在c.2623C>T (p.Asp875Tyr)错义变异,该变异既往未见报道,且为新发(de novo)变异(PS2),在主要人群基因频率数据库中均不存在(PM2)。经PolyPhen-2、MutationTaster、PROVEAN等软件预测,均提示c.2623C>T (p.Asp875Tyr)变异为有害变异;同时经UCSF chimera及CASTp软件对编码蛋白3D结构进行建模及酶活性位点定位,发现该氨基酸的改变可影响编码蛋白原有的酶结合口袋空间大小,进而影响其与底物结合的能力,导致原有酶功能丧失(PP3)。根据美国医学遗传学与基因组学学会指南判定为可能致病变异(PS2+PM2+PP3)。结论KAT6B基因c.2623C>T(p.Asp875Tyr)变异可能为该患儿罹患Say-Barber-Biesecker-Young-Simpson综合征的原因。