目的 成骨发育不全家系致病基因的鉴定.方法 检测先证者 3 例及家族成员 9 例的COLIA1、COLIA2、LEPRE1 与CRTAP基因编码区DNA序列,将其突变位点寻找出来.结果 3 例先证者中,存在致病基因突变 2 例,占总数的 66.67%,其中COLIA1 基因突变2例,占 100.00%.相同的COLIA1 基因Gly767>Ser突变 1 例,占 9.30%,在 33 外显子区分布,是中国人成骨不全突变热点.临床表型和突变基因型有一定的相关性存在.结论 成骨发育不全家系致病基因主要为COLIA1,可能为成骨不全的早期诊断提供新的信息.

目的 应用同位素相对标记与绝对定量技术(iTRAQ)分析支原体肺炎患儿血清蛋白,筛选出差异蛋白并行其功能分析.方法 采用强阳离子交换色谱分析法对8种不同同位素标记的iTRAQ和液相色谱法以及串联质谱分析支原体肺炎组(MPP组)和健康对照组血清蛋白并通过Mascot软件分析和GO分析表达差异的蛋白.结果 与对照组相比,MPP组中共鉴定出有定量信息的蛋白质66个,包括52个上调蛋白和14个下调蛋白.生物信息学分析显示差异表达的蛋白主要参与急性期反应、急性炎症反应、氧气输送、空气运输、过氧化氢分解过程、细胞氧化解毒、凝血、及细胞解毒等过程,这些表达差异的蛋白中选择6个显著表达差异作为候选蛋白,分别是上调蛋白SAA、CRP、HBB、APOM和下调蛋白APOC3、GPX3.结论 本研究发现这6种蛋白在小儿支原体肺炎过程中发挥重要作用,可能作为该病潜在的临床筛查生物标志物.

目的 探讨应用同位素标记相对和绝对定量技术(iTRAQ)筛选的相关差异蛋白在重症肺炎患儿并心肌损害和心力衰竭诊断中的临床价值,为临床诊治提供参考依据.方法 通过强阳离子交换色谱分析法的8种不同同位素标记的iTRAQ和液相色谱法以及串联质谱分析重症肺炎患儿(观察组)和健康儿童(对照组)血清蛋白.通过Mascot软件分析和GO分析表达差异的蛋白.结果 与对照组相比,观察组中共鉴定出有定量信息的蛋白质89个,包括61个上调蛋白和28个下调蛋白.生物信息学分析显示差异表达的蛋白主要参与急性期反应、氧运输活动及酶催化等过程,这些表达差异的蛋白中选择5个显著表达差异作为候选蛋白,分别是CRP、SAA、PI16、BLVRB、G3P.结论 本研究发现这5种蛋白在小儿重症肺炎并发心肌损害和心力衰竭过程中发挥重要作用,可能作为该病潜在的临床筛查生物标志物.

目的：探讨阿奇霉素序贯治疗小儿肺炎支原体肺炎的临床效果。方法：病例选取我院2013年2月～2015年6月收治的108例患儿，利用随机数字表法随机分为观察组和对照组。观察组采用阿奇霉素序贯治疗，对照组采用红霉素序贯治疗，观察两组治疗后的咳嗽消失、退烧、啰音消失及住院时间，两组患儿治疗前后粒细胞刺激集落因子（G-CSF）和C反应蛋白（CRP）水平，两组治疗效果及不良反应情况。结果：观察组在退烧、咳嗽消失、啰音消失及住院时间上（1.5±0.6、8.3±2.6、3.2±1.4、9.9±2.1）明显少于对照组（3.3±0.4、13.8±3.2、6.8±2.7、14.8±4.1）（P<0.05），两组患儿治疗前G-CSF和CRP水平无明显差异（P>0.05），治疗后观察组（50.1±6.7、8.1±2.4）少于对照组（91.8±11.6、12.9±3.6）。观察组治疗总有效率94.8%明显高于对照组的86.0%（P<0.05）。观察组6例不良反应（10.9%）明显低于对照组24例不良反应（48.0%）（P<0.05）。结论：阿奇霉素序贯治疗小儿肺炎支原体肺炎不仅具有很好的临床疗效，而且不良反应发生率低，具有很好的临床应用价值。

选取2005年4月~2015年4月我院收治的48例川崎病患儿作为研究对象，采用随机数字表法将所选患儿分为试验组和对照组各24例，试验组给予小剂量丙种球蛋白分次给药治疗，对照组给予大剂量丙种球蛋白单次给药治疗，综合比较两组患儿治疗总有效率及临床症状、体征消失时间。试验组治疗总有效率与对照组比较差异无显著意义(P>0.05)；试验组患儿黏膜充血、皮疹、淋巴结肿大及手足症状等消退时间与对照组比较均无统计学差异(P>0.05)。丙种球蛋白治疗小儿川崎病效果确切，剂量大小对治疗效果影响较小，小剂量疗法有利于减轻心肺负担。

Objective To determine the alterations of IGF-1 levels in newborns with HIE at acute stages.Methods Radioimmunoassay was performed to detect the IGF-1 levels in serum isolated from 48cases of normal controls and 46 cases of HIE newborns at acute and recovery period.Results The IGF-1 levels in HIE newborns were significantly lower than those in controls(P0.01).Conclusion Decreasing IGF-1 in HIE newborns is correlated with the pathophysiological procedure of HIE,which could be taken as an index of diagnosis about HIE,or as a target molecule in therapeutic strategy.

目的 苦参碱注射液对婴儿巨细胞病毒性肝炎患者肿瘤坏死因子-α(TNF-α)的影响.方法 将42例婴儿巨细胞病毒(CMV)肝炎患儿随机分为苦参碱治疗组(n=22)与更昔洛韦对照组(n=20).两组均予以常规保肝降酶治疗为基础.苦参碱治疗组用苦参碱注射液20～25mg/d静脉滴注,每日1次,连用14天;间隔7～10天后20～25mg/kg·d静脉滴注,每日1次,连用5天,共2～3个疗程.更昔洛韦对照组用更昔洛韦5mg/kg·d静脉滴注,每日2次,连用14天;间隔7～10天后5mg/kg·d静脉滴注,每日1次,连用5天,共2～3个疗程.观察两组TNF-α水平变化.结果 治疗前、后苦参碱注射液对血TNF-α、TBIL、ALT的变化.(P＜0.01).结论 苦参碱注射液治疗婴儿巨细胞病毒性肝炎疗效确切,可能与抑制TNF-α释放有关.

Objective:To observe the treatment of infants' Cytomegalovirus hepatitis with Matrlne injection.Methods:Fourty-two cases of CMV hepatitis were randomly divided into tow groups: the treated group(n =22) and the control group(n = 20).The treated group with Matrlne(25 mg/ d) once daily for 14 days.After 7～10 day with Matrlne(25 mg/ d) once daily for 5 days.Then repeat 2～3 time.The control group with Ganciclovir 5md/kg·d twice daily for 14days.After 7～10 day with Ganciclovir 5md/kg·d twice daily for 5 days,then repeat 2～3 time.Results:There were significant differences in IBIL and TBA between the two groups after two weeks(P<0.05).There were very significant differences in time of initial jaundice disappearance and complete disappearance after two weeks(P<0.01).Conclusion:As enitial Ademetionine,Transmetil could supplement absenced endogenesis Ademetionine,efficiencly decrease intestines-liver ciculation,protect scathing liver cell,accelerate jautice fadeaway.

慢性肉芽肿病是一种少见的遗传性疾病,多为性联隐性遗传疾病,本病尚无根治方法,我院于13年来诊治2例,本文回顾2例患儿的诊疗经过,现报道如下.

Objective To observe the curative effect of matrine injection on infant cytomegalovirus(CMV) hepatitis.Methods Forty-two cases of CMV hepatitis were randomly divided into 2 groups:treatment group(n=22) and control group(n=20).The treatment group was given matrine injection intravenously(20-25) mg/d once daily for 14 days.Ten days after the first course,matrine injection was given in travenously for another 5 days in a dosage of(20-25) mg/d.Then the treatment was repeated 2,3 times.The control group with ganciclovir 5 mg/(kg·d) twice daily for 14 days.After 7-10 days with ganciclovir 5 mg/(kg·d) once daily for 5 days,then the treatment was repea-ted 2、3 times.All cases′ blood human cytomegalovirus(HCMV) DNA copies were detected by FQ-PCR technique before and after treated.Radioimmunoassay was used to detect the expression of TNF-α in the different periods.Clinical and laboratory results were observed.Results 1.There were no significant differences in HCMV DNA copies between the 2 groups after treated for 6 weeks(P0.05).2.There were significant differences in the levels of TNF-α after treated for 4 weeks(P0.01).3.There were no significant differences in ALT,total bilirubin(TBIL),direct bilirubin(DBIL),indirect bilirubin(IBIL),bile acids(TBA) between the 2 groups before and after treated 6 weeks(Pa0.05).4.There were no significances between the 2 groups before and after treated 6 weeks in the change of liver.Conclusions Matrine injection can inhibit HCMV DNA replication.It can also control the expression of TNF-α and regulate the function of the immune system.There fore matrine injection has an antivirus efficacy in HCMV infection.

Objective:To observe the treatment of infants' Cytomegalovirus hepatitis with Matrlne injection.Methods:Fourty-two cases of CMV hepatitis were randomly divided into tow groups: the treated group(n =22) and the control group(n = 20).The treated group with Matrlne(25 mg/ d) once daily for 14 days.After 7～10 day with Matrlne(25 mg/ d) once daily for 5 days.Then repeat 2～3 time.The control group with Ganciclovir 5md/kg·d twice daily for 14days.After 7～10 day with Ganciclovir 5md/kg·d twice daily for 5 days,then repeat 2～3 time.Results:There were significant differences in IBIL and TBA between the two groups after two weeks(P0.05).There were very significant differences in time of initial jaundice disappearance and complete disappearance after two weeks(P0.01).Conclusion:As enitial Ademetionine,Transmetil could supplement absenced endogenesis Ademetionine,efficiencly decrease intestines-liver ciculation,protect scathing liver cell,accelerate jautice fadeaway.

Objective:To study the changes of serum insulin like growth factor-1(IGF-1)levels in newborns with Hypoxic ischemic encephalopathy(HIE).Method:To detect the IGF-1 levels by RIA in serum isolated from 30 cases of normal controls and 60 cases of HIE newborns at acute and recovery period,among which the mild,moderate and severe HIE group had 20 cases respectively.Results:The IGF-1 levels in HIE newborns at both acute and recovery period were significantly lower than those in controls(P0.01),whereas IGF-1 increased obvious at recovery period compared with those at acute(P0.01).The IGF-1 levels in mild,moderate and severe HIE newborns were different to each other(P0.01).More severe HIE leaded to more decrease of IGF-1.Conclusion:Decreasing IGF-1 in HIE newborns is correlated with the pathophysiological procedure of HIE,which can be taken as an index of severity for clinical monitoring or as a target molecule in therapeutic strategy.

目的:对胎粪吸入综合征发病原因、诊断和治疗方法进行探讨。方法:对该院儿科1999年8月~2005年8月间收住55例胎粪吸入综合征的临床资料进行回顾性分析。结果:55例MAS患儿中治愈34例(61.8%),好转出院15例(27.3%),死亡6例,病死率10.9%。结论:MAS死亡率高,其中重度MAS死亡率明显增高,加强新生儿科、产科及手术室合作,早期及时积极治疗可以降低其病死率。

Objective To determine the alterations of IGF-1 levels in newborns with HIE at variant stages.Meth- ods Radioinmmunoassay was performed to detect the IGF-1 levels in serum isolated from 30 cases of normal controls and 45 cases of HIE newborns at acute and recovery period,among which the mild,moderate and severe HIE group had 15 cases. Results The IGF-1 levels in HIE newborns at both acute and recovery period were significantly lower than those in controls (P<0.01),whereas IGF-1 increased obviously at recovery period compared with those at acute(P<0.01).The IGF- 1 levels in mild,moderate trod severn HIE newborns were different to each other(P<0.01).More severe HIE leaded to more decrease of IGF-1.Conclusion Decreasing IGF-1 in HIE newborns is correlated with the pathophysiological proce- dure of HIE,which could be taken as an index of severity for clinical monitoring or as a target molecule in therapeutic strate- gy.

Objective To determine the clinical features of atypical intracranial hemorrhage in newborns and improve the accuracy of diagnosis in early stage.Methods During 2000 to 2005, there were 152 newborns with intracranial hemorrhage treated in our department, including 65 atypical cases. All the medical records were analyzed retrospectively, and the indications and prognosis were compared between atypical or typical cases.Results Most of the 65 atypical cases showed mild abnormality in consciousness, muscular tension, and primitive reflex. Subarachnoid hemorrhage occurred in 46 cases . The delivery pattern and birth trauma in atypical cases had no differences to those in typical ones( P 0.05).But the ratio of preterm infants in atypical cases was significantly higher ( P 0.05);the level of asphyxia was lower( P 0.05); and their prognosis was better with 52 cases of healing ( P 0.05).Conclusion Atypical intracranial hemorrhage occurs more frequently in preterm infants with milder indications. It tends to cause misdiagnosis or missed diagnosis in early stage, which should be paid sufficient attention to.

新生儿窒息缺血缺氧,酸中毒可致多系统器官损害,心肌损伤发生率28%～44%,有高达66.5%的报道[1].为探讨窒息新生儿心肌损伤早期诊断规律,本文通过对正常新生儿轻、重度窒息新生儿脐血心肌酶CPK、CK-MB活性测定,进行比较分析,统计学处理,讨论CK-MB活性高的临床意义.

轮状病毒肠炎俗称秋季腹泻[1],一般婴幼儿多发,起病急,发展快,病情较重,且往往集中发病.我科住院部于2001年11月下旬～2002年1月上旬约45天共收治轮状病毒肠炎患儿129例,现将诊疗体会介绍如下.