影响早产儿生存质量的因素及防治措施

通过对136例早产儿临床及防治分析,提出提高早产儿生存质量,应在生后半月内重点防治下列常的并发症：①新生儿高胆红素血症;②新生儿窒息;③新生儿颅内出血及缺氧缺血性脑病;④新生儿低血糖;⑤呼吸暂停。     

中国Rett综合征患儿突变基因的亲源分析

Objective To identify the parental origin of methyl-CpG-binding protein 2 (MECP2)gene mutations in Chinese patients with Rett syndrome. Methods Single nucleotide polymorphisms (SNPs) in intron 3 of the MECP2 gene were analyzed by PCR and sequencing in 115 patients with Rett syndrome.Then sequencing of the SNP region was performed for the fathers of the patients who had at least one SNP,to determine which allele was from the father. Then allele-specific PCR was performed and the products were sequenced to see whether the allele from father or mother harbored the mutation. Results Seventy-six of the 115 patients had at least one SNP. Three hot SNPs were found in these patients. They were: IVS3+22C＞G, IVS3+266C＞T and IVS3+683C＞T. Among the 76 cases, 73 had a paternal origin of MECP2 mutations, and the other 3 had a maternal origin. There were multiple types of MECP2 mutation of the paternal origin, including 4 frame shift, 2 deletion and 67 point (56 C＞T, 6 C＞G, 2 A＞G, 2 G＞T and 1 A＞T) mutations. The mutation types of the 3 ptients with maternal origin included 2 frame shift and 1 point (C＞T) mutation. Conclusion In Chinese RTT patients, the MECP2 mutations are mostly of paternal origin.     

甲基丙二酸血症合并同型半胱氨酸尿症临床分析

目的 探讨患儿临床特点甲基丙二酸血症结合同型半胱氨酸尿症.方法 回顾性分析7 例甲基丙二酸血症合并同型半胱氨酸尿症患儿临床资料,发病年龄、症状、体征、血常规、生化指标、生长发育、神经影像学检查的结果及其预后.结果 7 例患者中,癫痫发作5 例,嗜睡6 例,智力低下3 例,喂养困难3 例,高血压1 例.均给予注射维生素B12 、限制蛋白质摄入、口服补充左旋肉碱.经过6 个月的随访,1 例症状完全消失,2 例好转,3 例无改善,1 例放弃治疗.结论 甲基丙二酸血症合并同型半胱氨酸尿症的临床表现无特异性.维生素B12 肌肉注射和口服左旋肉碱,甜菜碱能缓解临床症状,多数患者病情会得到能改善.     

儿童热性惊厥/热性惊厥附加症临床特点及其热点基因

目的 通过对热性惊厥(FS)/热性惊厥附加症(FS⁺)患儿临床特点及其热点基因筛查，探讨其基因谱并为预后评估及精准治疗奠定基础。方法 选取109例首发年龄小、频繁FS/FS⁺患儿进行热敏感相关癫痫基因检测，观察其预后与基因的相关性。结果 109例中筛查出20例涉及10种致病性基因突变，其中SCN1A突变8例，PCDH19突变3例，GABRB3突变2例，GABRG2、ASAH1、ADGRV1、CDKL5、GLB1、ST3GAL5、MEF2C基因突变各1例。9例转变为热敏感癫痫，其中Dravet综合征(Dravet syndrome, DS)3例，FS⁺伴失神及FS⁺伴肌阵挛各1例，PCDH19基因相关癫痫3例，Rolandic癫痫(运动性癫痫)1例。结论 FS/FS⁺与多个基因突变相关，SCN1A是其主要热点基因，其次是PCDH19和GABRB3基因。     

小儿腹泻伴无热惊厥60例临床分析

<正>小儿腹泻是婴幼儿时期仅次于呼吸道感染的多发病,临床合并无热惊厥者亦不少见。现将我院2010年1月至2013年6月因腹泻伴无热惊厥而住院的60例患儿进行回顾性研究分析,以寻找其可能引起惊厥的原因。1资料与方法1.1研究对象2010年1月至2013年6月因急性腹泻伴无热惊厥入我院儿科病房的60例患儿,其中男性36例,女性24例,年龄6个月至<1岁15例,1~<2     

小儿肢体无力60例临床分析

<正>肢体无力是小儿神经系统疾病常见的症状之一,其病因复杂,重者病情进展迅速可危及生命,部分患儿可遗留不同程度后遗症,严重影响生活质量。故对该类疾病的诊断及鉴别诊断显得尤为重要。至目前,国内相关文献报道甚少,本文仅将我院神经内科1年内以肢体无力为主要症状收住入院的患儿进行回顾性病例分析,现报告如下。1资料与方法1.1一般资料:对我院2012年1月至2013年1月以肢体无力为主要症状收住神经内科的60例患者病历资料进行回顾性分析。其中男性36例,女性24例,男∶女为1.5∶1。患儿发病年龄1个月至14岁,其中<1岁1例(2%),1³岁25例(42%),43岁25例(42%),4⁶岁14例(23%),76岁14例(23%),7¹4岁20例(33%)。受累肢体:单肢8例(13%),双下肢28例(47%),偏侧肢体5例(8%),四肢19例(32%)。间断性肢体无力8例(13%),持续性肢体     

小儿急性良性肌炎38例临床分析

目的：探讨小儿急性良性肌炎的病因、临床特点、鉴别诊断及转归。方法：分析2007年1月～2009年1月38例A,JL急性良性肌炎的临床资料。结果：38例中92．1％病前有上呼吸道感染,73．7％冬春季节发病,男孩多见。38例均有突然发作行走困难、跛行、肌痛,累及双侧小腿或大腿肌肉,急性期血清肌酸磷酸激酶（CK）显著升高。30例做病原学检查,5例柯萨奇病毒IgM阳性,4例分离出B流感病毒,3例支原体抗体阳性,2例EB病毒PCR阳性,16例未检出病原。经过治疗81．6％在7d内疼痛消失,CK恢复正常,2例疾病复发。结论：小儿急性良性肌炎起病突然,据其临床特征及急性期血清CK显著增高,诊断并不困难,需与格林－巴利综合征、流行性肌痛等鉴别。其病原除B流感病毒外,柯萨奇病毒、支原体及EB病毒也可能为本病病原。该病有复发可能,其机制有待进一步探讨。     

中国Rett综合征患儿突变基因的亲源分析

Objective To identify the parental origin of methyl-CpG-binding protein 2 (MECP2)gene mutations in Chinese patients with Rett syndrome. Methods Single nucleotide polymorphisms (SNPs) in intron 3 of the MECP2 gene were analyzed by PCR and sequencing in 115 patients with Rett syndrome.Then sequencing of the SNP region was performed for the fathers of the patients who had at least one SNP,to determine which allele was from the father. Then allele-specific PCR was performed and the products were sequenced to see whether the allele from father or mother harbored the mutation. Results Seventy-six of the 115 patients had at least one SNP. Three hot SNPs were found in these patients. They were: IVS3+22C＞G, IVS3+266C＞T and IVS3+683C＞T. Among the 76 cases, 73 had a paternal origin of MECP2 mutations, and the other 3 had a maternal origin. There were multiple types of MECP2 mutation of the paternal origin, including 4 frame shift, 2 deletion and 67 point (56 C＞T, 6 C＞G, 2 A＞G, 2 G＞T and 1 A＞T) mutations. The mutation types of the 3 ptients with maternal origin included 2 frame shift and 1 point (C＞T) mutation. Conclusion In Chinese RTT patients, the MECP2 mutations are mostly of paternal origin.     

儿童病毒性脑炎血清及脑脊液中病毒抗体检测分析

目的：探讨不同年龄不同季节病毒性脑炎患儿脑脊液及血清中病毒特异性IgM抗体阳性率的差异及其诊断意义。方法：应用酶联免疫吸附法（ELISA）对116例病毒性脑炎患儿的脑脊液及血清进行病毒检测,包括单纯疱疹病毒、EB病毒、风疹病毒、乙脑病毒、巨细胞病毒、肠道病毒。结果：脑脊液特异性IgM抗体阳性者55例（47.4%）,其中乙脑病毒11例（20%）,单纯疱疹病毒（HSV）10例（18.2%）,巨细胞病毒（CMV）5例（9.1%）,EB病毒（EBV）9例（16.4%）,风疹病毒（RV）未检出,肠道病毒（EV）20例（36.4%）。血清特异性IgM抗体阳性者70例（60.3%）,其中乙脑病毒13例（18.6%）,HSV12例（17.1%）,CMV7例（10%）,EBV11例（15.7%）,RV1例（1.4%）,EV26例（37.1%）。结论：EV为病毒性脑炎主要病原,病毒性脑炎发病主要集中在7-12月份;检测血清IgM与脑脊液IgM两者有相同检验价值。