肺表面活性物质蛋白-C基因186位点多态性与内蒙古地区蒙古族与汉族新生儿呼吸窘迫综合征相关性分析

目的：研究肺表面活性物质蛋白( surfactant protein,SP)-C基因多态性,以186位点为重,研究内蒙古地区蒙古族与汉族新生儿呼吸窘迫综合征( respiratory distress syndrome of newborn, NRDS)的相关性,分析两族是否具有基因位点差异性。方法选择151例NRDS患儿( NRDS组)与151例正常新生儿(对照组)作为研究对象,应用PCR及基因分析技术检测186位点,分析其多态性与NRDS的关系。结果在内蒙古地区,不论蒙古族还是汉族,SP-C基因186位点基因型均可检出3种基因型：即AA、AG及GG型。其中,蒙古族NRDS组和对照组患儿此3种基因型频率分别为：19.6％、33.3％、47.1％和23.5％、27.5％、49.0％,NRDS组和对照组A等位基因频率分别为36.3％和37.3％, G等位基因频率分别为63.7％和62.7％。汉族 NRDS 患儿和对照组此3种基因型频率分别为：14.0％、28.0％、58.0％和10.0％、30.0％、60.0％, NRDS 组和对照组患儿 A 等位基因频率分别为28.0％和25.0％,G等位基因频率分别为72.0％和75.0％。内蒙古地区蒙古族与汉族NRDS患儿SP-C基因型及等位基因频率在不同性别、出生体重、胎龄、分娩方式等中无明显关联( P>0.05)。对比蒙古族与汉族NRDS患儿在SP-C基因186位点上基因型和等位基因分布,并未发现SP-C基因186位点多态性具有种族上的统计学差异( P>0.05)。结论内蒙古地区NRDS患儿SP-C 186位点基因多态性无明显的种族相关性。     

内蒙古西部地区汉族新生儿呼吸窘迫综合征与SP-B外显子7区域R236C位点的相关性研究

目的通过检测和分析肺表面活性物质蛋白B基因外显子7(exon7)区域上是否存在基因变异,探讨其与内蒙古西部地区汉族新生儿呼吸窘迫综合征(NRDS)发病的关系。方法采用病例对照研究方法,选择祖上三代都居住在内蒙古西部地区的汉族NRDS患儿47例作为病例组,选择同民族和同群体中未发生NRDS的新生儿47例为对照组。通过PCR基因分析技术检测SP-B基因外显子7区域上有无突变,以及SP-B外显子7(R236C)位点的基因型、等位基因分布。结果在内蒙古西部地区汉族新生儿中,SP-B基因外显子7区域无突变发生;SP-B外显子7(R236C)位点基因型均可检出两种基因型(CC、CT),两组中均未检出TT基因型。病例组CC和CT基因型频率分别为72%和28%,C等位基因频率为85%,T等位基因频率为15%。对照组此两种基因型分别为85%和15%,C等位基因频率为93%,T等位基因频率为7%。病例组与对照组此位点基因多态性相比等位基因及基因型频率在两组之间差异无统计学意义(P0.05)。结论内蒙古西部地区汉族NRDS患儿的SP-B基因第7外显子未发现基因突变。未发现SP-B基因外显子7(R236C)位点基因多态性与该地区汉族NRDS的发生有明显相关性。     

SP-B 外显子4（T131I）位点与蒙古族新生儿呼吸窘迫综合征相关性研究

目的探讨SP-B外显子4(T131I)位点与内蒙古西部地区新生儿呼吸窘迫综合征(NRDS)易感性的关系。方法采用病例对照研究方法,选择于2009年9月-2016年2月住院诊断为NRDS的蒙古族早产儿86例作为病例组,选择同期未发生NRDS的蒙古族早产儿86例作为对照组。应用聚合酶链反应-单链构象多态(PCR-SSCP)分析技术及基因测序技术检测SP-B基因exon4区域上有无突变,以及T131I位点的基因型、等位基因分布。结果在所有研究对象中,SP-B基因exon 4区域无突变发生,T131I位点基因型均可检出3种基因型,即CC、CT、TT,病例组所占比例分别为58.1%、27.9%、14.0%,对照组分别为40.7%、43.0%、16.3%,两组基因型分布的差异无统计学意义(χ2=5.57,P=0.062);病例组C等位基因频率为80.2%,高于对照组(64.0%),差异有统计学意义(χ~2=11.33,P0.001)。结论 SP-B基因外显子4(T131I)位点基因多态性可能是蒙古族NRDS易感基因之一。     

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??Objective To investigate the different clinical characteristics of neonatal respiratory distress syndrome??NRDS?? in infants of various gestational ages and to provide a new basis for clinical treatment. Methods A total of 80 cases of NRDS infants in the First Affiliated Hospital of Harbin Medical University from March 2012 to March 2014 were divided into two groups according to gestational age: early preterm infants group??< 34 weeks??42 cases, M group????and nearly full-term group??≥ 34 weeks??38 cases, N group??.Lung surface active substances (PS) replacement and auxiliary ventilation were used, and the general situation??risk factors??treatment condition??prognosis and complications in each group were analyzed. Results The morbidity of NRDS in the male was higher than in the female. The onset time of M group was earlier than N group. In M group it was due to the fact that glucocorticoid was not used and premature birth . In N group it was due to caesarean section. The higher incidence of NRDS in M group was due to premature rupture of membranes and placental abnormality. The lower incidence of NRDS in M group was due to pregnancy hypertension, diabetes, intrauterine distress and abnormal umbilical cord . The PS use time in M group was less than N group. The secondary utilization rate in M group was higher than the N group. The distress degree of M group was higher, and assisted ventilation time and complications were more, compared to N group. Conclusion There are different clinical characteristics of NRDS in infants of various gestational ages. Correct guidance should be given during pregnancy and childbirth and appropriate treatment should be chosen.     

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??Abstract??Objective??To observe the effect of early drip feeding and the occurrence of its correlated complications in premature and very low birth weight infants??and study its clinical application value. Methods??From June 2006 to December 2008 at the Affiliated Hospital of Binzhou Medical College Hospital ??45 cases of very low birth weight babies in premature infants were randomly divided into two groups. Twenty-three cases with early drip feeding were included in study group and 22 cases with early nasogastric tube feeding in control group. Milk amount increasing speed?? body weight increasing speed?? the time of beginning oral feeding??total enteral feeding?? recovery time of birth weight?? completely meconium excretion time?? all acumulative phototherapy time?? hospital stay time and correlated complications were compared between the two groups. Results??Compared with the control group?? body weight increased faster in study group ??P < 0.05????and milk amount obviously increased more in study group ??P < 0.01??.The time of beginning oral feeding?? the time of total enteral feeding??recovery time of birth weight??completely meconium excretion time?? all acumulative phototherapy time and hospitalization period were obviously shorter in study group than in control group??P < 0.01??.The incidence rates of aspirated pneumonia??gastric hemorrhage and stomatitis in study group decreased compared with control group??P < 0.05??.The incidence rates of apnoea??emesia and abdominal distension in study group obviously reduced compared with control group??P < 0.01??. Conclusion??Early drip feedling can quickly boost the survivability of enteral feeding in premature very low birth weight infant?? shorten the clinical course and reduce the occurrence of clinically complications. It is worthy of clinically application and extension.     

肺表面活性物质蛋白 B、C 基因变异与蒙古族早产儿 呼吸窘迫综合征相关性研究

目的研究肺表面活性物质蛋白(SP)B、SP-C基因外显子4(exon4)区域基因变异与蒙古族早产儿呼吸窘迫综合征(RDS)的相关性。方法选择住院治疗的无血缘关系的蒙古族RDS早产儿50例(男31例,女19例),同期、同民族和同群体中无血缘关系的非RDS早产儿50例为对照组(男27例,女23例),分别用聚合酶链式反应(PCR)基因多态性分析和基因检测技术对SP-B、SP-C基因exon4区域基因进行测序,并比较两组患儿SP-B基因exon4区域1580位点基因变异及基因型频率、SP-C基因exon4区域c.571C A(T138N)位点基因变异及基因型频率的差异。结果检测出SP-B基因exon4区域1580位点基因变异,RDS组14例,变异率为28%,非RDS组11例,变异率为22%,两组差异无统计学意义(χ2=0.480,P 0.05)。RDS组1580位点CC、TT、CT基因型频率分别为16%、72%和12%,非RDS组则分别为10%、78%和12%;RDS组C等位基因频率为22%、T等位基因频率为78%,非RDS组则分别为16%、84%;两组间基因型频率差异无统计学意义(χ~2=1.170,P 0.05)。检测出SP-C基因exon 4区域c.571 C A(T 138 N)位点基因变异,RDS组41例,变异率为82%,非RDS组6例,变异率为12%,两组间差异有统计学意义(χ~2 =49.177,P 0.05)。RDS组c.571C A(T138N)位点CC、AA、AC三种基因型频率分别为18%、50%和32%,非RDS组分别为88%、8%和4%;RDS组C等位基因频率为34%、A等位基因频率为66%,非RDS组则分别为90%、10%,两组间A等位基因型频率的差异有统计学意义(χ~2=66.553,P 0.05)。结论携带SP-C基因exon 4区域c.571 C A(T 138 N)位点A等位基因的蒙古族早产儿患RDS的风险更高,而SP-B基因exon 4区域1580位点基因变异与蒙古族早产儿发生RDS无关。     

20例汉族新生儿呼吸窘迫综合征肺表面活性物质蛋白遗传缺陷的研究

目的探讨汉族群体新生儿呼吸窘迫综合征发病的遗传机制,为进一步开展基因治疗NRDS提供科学实验依据。方法选择彼此无关的汉族NRDS20例作为NRDS组,选择彼此无关的汉族20例其他病例作为对照组,年龄与NRDS组相匹配,这些患儿可患有先心病、支气管肺发育不良、持续肺动脉高压。所有研究对象在临床确诊或住院后取血样本,NRDS组和对照组在患者死后30min内取肺组织。采用免疫组化技术检测SP—B在肺部的表达,PCR技术分析筛选SP-B基因Intron 4的遗传缺陷变异体。结果20例NRDS患儿中,26周2例、34周1例、42周2例SP-B蛋白在肺部的表达明显较同胎龄对照组少;而对照组随着胎龄的增加,SP-B在肺部的表达增加,但在NRDS组却无这种规律可寻,进一步对这5例进行基因分析发现,2例42周的NRDS患儿SP—B基因Intron 4 121ins2遗传缺陷变异体。临床资料表明,42周胎龄的NRDS患儿病情重。结论SP—B减少参与了NRDS的发病,汉族群体NRDS存在SP-B基因intron 4 121ins2遗传缺陷变异体,进一步在国内研究SP-B遗传缺陷变异体可望为疾病基因组样本库积累资料。     

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目的评价经鼻间歇正压通气(NIPPV)与经鼻持续正压通气(NCPAP)治疗新生儿呼吸窘迫综合征(NRDS)的疗效。方法选择2010年1月至2011年11月入住河北省儿童医院新生儿重症监护室(NICU)的NRDS患儿66例,随机分为NIPPV组(32例)和NCPAP组(34例),分别于入院0、12、24、72h进行血气分析,比较氧合改善情况、氧疗时间、呼吸机使用时间及并发症和预后等。结果治疗开始时(入院0h)两组PaO2、PaCO2差异无统计学意义(P>0.05)。治疗12、24、72h后PaO2、PaCO2、P/F、a/APO2均有改善(P均<0.05),且NIPPV组改善情况优于NCPAP组,两组比较差异有统计学意义(P均<0.05)。两组患儿CO2潴留、腹胀发生率差异有统计学意义(P<0.05),且NIPPV组开奶时间较NCPAP组提前。NIPPV组经鼻通气治疗失败后改为插管行呼吸机通气率明显低于NCPAP组,差异有统计学意义(P<0.05)。结论 NIPPV较NCPAP能在短时间内明显改善肺部氧合功能,缩短无创辅助通气及氧疗时间,减少了CO2潴留、腹胀的发生率,且开奶时间提前,降低了气管插管呼吸机上机率。     

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??Abstract?? Objective??To investigate the effects of early therapeutic intervention with nerve growth factor??NGF?? on brain damage following severe asphyxia in neonates. Methods??From Jan.2007 to Oct.2009??fifty-two cases of perinatal severe asphyxia in Guangzhou Children’s Hospital were randomly assigned to two groups?? the control group ??26 cases?? received routine treatment??including cerebrolysin and citicoline???? the study group ??26 cases?? was given NGF on the basis of routine treatment as early as possible ??within twenty-four hours after birth??. The incidence of the mortality were observed?? the degree of hypoxic-ischemic encephalopathy ??HIE?? was evaluated?? and the Neonatal Behavioral Neurological Assessment ??NBNA?? was done in both groups. Myelin basic protein??MBP?? and S-100 protein were measured dynamically by ELISA in serum from all patients. Results??There was no significant difference of the incidence of severe HIE and the mortality between the study group and the control group??23.08% vs 38.46%??χ2 = 1.4444??P > 0.05?? 3.85% vs 7.69%??χ2 = 0.0000??P > 0.05??. The level of blood serum MBP or S-100 protein in the asphyxiated newborns was higher than that of the normal term newborns. At 3d and 7??8d after birth??the level of blood serum MBP or S-100 protein in the study group was much lower than that in the control group. The percentage of the cases whose NBNA marks were less than 35 at 7??8 d and 14??16 d after birth in the study group was much lower than that in the control group??40.00% vs 70.83%??χ2 = 4.7055??P < 0.05??20.00% vs 50.00%??χ2 = 4.8640??P < 0.05??. Conclusion??Using NGF on the basis of the routine treatment as early as possible after resuscitation can reduce markedly the severity of asphyxia-induced brain damage in neonates.