科创中国

开学了,韦昌耀是小学校长;放假了,他是木工、剪纸工、围巾工;作为教师,他每天行走六小时山路无偿代课;作为父亲,他要面对两个地中海重度贫血病儿女的治疗费用

The?ecological?consequences?of?climate?extreme?events?are?still?poorly?understood,?especially?those?related?to?cold?episodes.?Winter?cold?spells?might?imperil?the?energy?balance?of?small?passerines,?thus?compromising?their?survivorship.?Here?we?analyze?how?the?abundance?and?habitat?use?of?three?tree-gleaning?passerine?species?wintering?in?a?montane?oakwood?of?central?Spain?at?ca.?1,300?m?a.s.1,?was?influenced?by?the?cold?wave?that?hit?Europe?in?February?2012.?We?monitored?temperature,?wind?and?the?relative?abundance?of?great?tit?Parus?major,?blue?tit?Cyanistes?caeruleus?and?long-tailed?tit?Aegithalos?caudatus?in?15?plots?throughout?three?periods:?before,?during?and?after?the?cold?wave.?Our?results?clearly?rule?out?widespread?mortality?and?temporal?migration?of?the?studied?passerine?populations,?as?the?abundance?of?these?species?did?not?diminish?during?the?cold?wave.?Moreover,?the?species?usually?foraging?higher?in?the?tree?canopy?-and?thus?more?exposed?to?windmoved?to?the?less?windy?woodland?plots?(long-tailed?tit)?and?reduced?their?foraging?height?above?ground?during?the?cold?wave?(long-tailed?tit?and?blue?tit),?probably?to?mitigate?the?deleterious?effects?of?wind?chill.?Therefore,?these?forest?birds?were?able?to?cope?with?a?dry?cold?wave?that?was?statistically?extreme?in?terms?of?temperature?and?wind?chill,?according?to?the?historic?climate?records?of?the?region.?It?seems?that,?at?least?when?foraging?substrates?are?not?heavily?covered?by?snow?or?ice,?Mediterranean?birds?can?resist?an?extreme?cold?wave?[Current?Zoology?60?(4):?429-437,?2014].

目的 应用常用筛查方法鉴别诊断153例孕期妇女的轻型β-地中海贫血和缺铁性贫血并进行结果分析.方法 轻型β-地贫组、缺铁性贫血组,检测红细胞6项参数及血清铁(SI)、血清铁蛋白(SF).结果 红细胞6项参数,RBC:IDA组显著降低,轻型β-地贫组显著升高;Hb:IDA组及轻型β-地贫组显著降低;MCV和MCH:IDA组及轻型β-地贫组显著降低;MCHC:IDA组显著降低;RDW:IDA组显著升高.IDA组SI、SF均显著降低;轻型β-地贫组SF显著增高.结论 红细胞6项参数和SF对轻型β-地贫与缺铁性贫血有鉴诊断意义.

目的:评价富集母血浆中胎儿游离DNA的实验平台在母血浆中富集、鉴定胎儿游离DNA的适用范围.方法:(1)筛选与父源性β地中海贫血基因连锁的单核苷酸多态性(SNP)位点:利用Haploview软件对20例β地中海贫血患者(其中CD41-42型11例,IVS-II-654型9例)的β地中海贫血基因(HBB基因)进行SNP与单倍型自动化分析,检索出HBB基因内杂合度较高的SNP位点并检测与CD41-42位点及IVS-II-654位点连锁的SNP位点.(2)选取4例孕妇外周血标本,且夫妇双方为不同的β地中海贫血基因类型,利用快速耐受温度-低变性温度共扩增PCR技术(TT-FAST-COLD-PCR)检测父源性β地中海贫血基因类型为IVS-II-654型的孕妇外周血标本,若未直接检测到IVS-II-654位点,则检测仅与IVS-II-654位点连锁的SNP位点;同样的原理,利用完全耐受温度-低变性温度共扩增技术(TT-FULL-COLD-PCR)检测父源性β地中海贫血基因类型为CD41-42型的孕妇外周血标本;同时利用普通PCR技术对上述标本进行检测.结果:(1)检测出IVS-II654位点与rs7480526位点连锁9例;CD41-42位点与rs10768683位点连锁11例;(2)通过TT-FAST-COLD-PCR技术在孕妇外周血中检测出1例父源性致病突变基因(IVS-II-654位点),另外1例未直接检测到父源性致病突变基因,但检测到与其连锁的SNP位点(rs7480526位点),与羊水细胞培养检测结果一致,检出率为100%(2/2);通过TT-FULL-COLD-PCR技术在孕妇外周血中检测出2例父源性致病突变基因(CD41-42位点),与羊水细胞培养检测结果一致,检出率为100%(2/2);而普通PCR技术均未检测到上述父源性致病突变基因及与父源性等位基因连锁的SNP位点.结论:TT-COLD-PCR技术适用于富集母血浆中胎儿游离DNA突变,可用于无创性产前诊断单基因遗传病.

地中海贫血是一类遗传性珠蛋白合成障碍致异常血红蛋白的溶血性贫血.由于基因缺陷和珠蛋白合成障碍程度不一其临床表现严重程度不同,重型地中海贫血是致死性疾病.重型α地中海贫血即Hb Bart's综合征,常于孕中晚期流产、死胎或生后早期夭折.重型β地中海贫血是β0或β+纯合子或双重杂合子状态,β链