病毒性心肌炎长程24小时心率变异分析

本文对小儿病毒性心肌炎与健康小儿心率变异(HPV)长程24h时域分析各项指标进行对比,旨在探讨HRV对小儿病毒性心肌炎的临床应用价值。 对象与方法 一、对象 均为我院1991～2001年儿科门诊及住院患儿124例,年龄2～14岁。其中对照组(健康儿组)46例,男     

30名1周内足月儿短时心率变异分析

正常情况下,心电图上的R-R间隔并非绝对整齐,由R-R间隔计算所得的瞬时心率总是围绕平均心率上下波动,这就是心率变异(heart rate variabilty HRV)。基础及临床研究证实HRV是交感、迷走神经相互作用的结果。HRV分析可无创、定量评估交感迷走神经功能。本文用短时HRV分析仅就出生1周内30名健康足月儿自主神经功能进行初步探讨。     

儿童心肌炎睡眠期心率变异分析

目的研究心肌炎患儿夜晚睡眠期心率变异(HRV)变化。方法监测44例心肌炎患儿和60例正常对照儿童的24 h和睡眠期HRV。结果心肌炎患儿夜晚睡眠期心率高于正常对照儿童,而连续正常R-R间期的标准差(SDNN)低于正常对照儿童,差异均有统计学意义(P均<0.05);心肌炎患儿24 h HRV时域和频域指标均低于正常对照儿童,差异有统计学意义(P均<0.05)。结论心肌炎患儿的HRV指标降低;夜晚睡眠期HRV排除了日间情绪及活动等因素的影响,其结果更可靠。     

心肌炎患儿与正常儿童心率及心率变异性比较分析

目的 研究不同年龄心肌炎患儿的心率及心率变异性(HRV)改变的特点和相关性.方法 对120例心肌炎患儿进行24 h全程动态心电图检查,与804例正常儿童的心率及HRV进行比较分析.结果 7岁以下患儿最慢心率较正常增快,最快心率比较变化无差异,7～18岁患儿心率监测指标均异常;3～7岁心肌炎患儿与正常儿童比较每5分钟R-R间期平均值的标准差(SDANN)无变化,各组其他HRV指标均降低.结论 心肌炎患儿的HRV普遍降低,提示心脏自主神经系统的总体功能受损,以迷走神经张力降低为主,交感神经张力相对增强.     

儿童气质类型变化的追踪研究

目的　探讨和追踪 5 5～ 7 0岁儿童 2年后气质 (temperament)类型变化的情况。方法　采用 3～ 7岁儿童气质量表 ,即CCTS(Chinachildrentemperamentscale)问卷方式对 4 0 0名 5 5～ 7 0岁儿童的气质类型进行家长填表评定 (parenttemperamentquestionnaire,PTQ) ,然后按国内常模[1] 综合评定。 2年后用 3～ 7岁儿童和 8～ 12岁儿童气质量表对其气质类型再次进行追踪调查。结果　学龄前儿童与其 2年后气质类型的构成比无明显变化。结论　儿童的气质类型具有一定的稳定性和连续性 ,不随着儿童生长的变化而发生改变。了解气质的稳定性对抚育和培养小儿成长有意义。     

ACAD9基因新发变异致线粒体复合物Ⅰ缺乏症20型1例报告并文献复习

目的提高对线粒体复合物Ⅰ缺乏症20型(MC1DN20)临床表型及基因型的认识。方法回顾分析1例MC1DN20患儿的临床资料并复习相关文献。结果男性患儿,出生后即表现为精神及反应差,顽固性代谢性酸中毒及高乳酸血症和肝脏增大。全外显子基因测序发现ACAD9基因变异,c.1278+1GA为母源性剪切变异,c.895 AT 为父源性错义变异;线粒体基因二代测序及MLPA未发现受检者有临床意义的线粒体基因变异及大片段变异。结论发现导致MC1DN20的新的线粒体核基因ACAD9的c.1278+1GA剪切变异和c.895 AT错义变异。     

叶酸代谢障碍神经管畸形动物模型的基因组拷贝数变异研究

目的 检测甲氨蝶呤(MTX)诱导叶酸代谢障碍神经管畸形(NTDs)小鼠胚胎神经组织的基因组拷贝数变异(CNVs),探讨叶酸代谢障碍与NTDs发生的分子遗传学机制.方法 采用本实验室已建立的MTX诱导的叶酸代谢障碍NTDs C57BL/6J小鼠模型,于孕第7.5天采用MTX干预,收集孕鼠血清及NTDs小鼠胚胎神经组织;用NimbleGen高分辨率微阵列比较基因组杂交(array-CGH)芯片对NTDs小鼠胚胎神经组织进行全基因组CNVs分析,反转录(RT)-PCR验证新发现的CNVs;用液相色谱串联质谱法(LC-MS/MS)与酶学方法检测孕鼠血清中叶酸与其相关代谢产物水平及二氢叶酸还原酶(DHFR)活性.结果 array-CGH分析发现,NTD小鼠胚胎神经组织全基因组存在3个高可信度CNVs,分别位于XqE3、XqA1.1-qA2和XqA1.1染色体,RT-PCR验证了这3个CNVs的存在.与对照组相比,MTX干预后,NTDs孕鼠血清中5-甲基四氢叶酸、5-甲酰四氢叶酸、S-腺苷甲硫氨酸水平及DHFR活性明显降低,差异均有统计学意义(P均＜0.05).结论 MTX诱导的NTDs小鼠胚胎神经组织中存在明显的CNVs,叶酸代谢紊乱可通过CNVs导致小鼠胚胎神经管发育障碍.     

儿童伤寒杆菌原型、L型及原型伴L型混合感染的临床观察

1991年1月～2000年1月我科采用同时作血普通、高盐培养的方法,检出伤寒杆菌原型感染76型（B型）,伤寒杆菌L型感染32例（L型）,原型伴L型混合感染168例（L+B型）,现就三型临床特点总结如下。     

Mowat-Wilson综合征1例报告

目的探讨Mowat-Wilson综合征的临床特点。方法回顾分析1例Mowat-Wilson综合征患儿的临床资料及分子遗传学检测结果,并复习相关文献。结果患儿,女,3岁10个月,因智力运动发育迟缓及抽搐就诊;患儿面容特殊,前额突出、眼距宽、内眦赘皮、眉毛宽、鼻梁低、鼻小柱突出、下颌呈三角形、耳垂突出。心血管超声示二叶主动脉瓣;头部磁共振成像示双侧脑室轻度扩大;脑电图示额部、前颞导痫性放电。基因组测序及生物信息学分析显示患儿ZEB2基因3号外显子存在一处杂合突变c.164delC,导致氨基酸改变p.Pro55fs,确诊为Mowat-Wilson综合征。结论扩充了中国Mowat-Wilson综合征患者ZEB2基因突变谱。     

KBG 综合征1 例报告及文献回顾

目的探讨KBG综合征的临床及基因突变特点。方法回顾分析1例KBG综合征患儿的临床资料及分子遗传学检测结果,并复习相关文献。结果患儿,男,1岁11个月。因智力运动发育落后、耳聋及抽搐就诊。特殊外貌:身材矮小,眼睑下垂,眼距宽,内眦赘皮,耳廓及鼻梁突出,球状鼻,长人中,中切牙宽大畸形,手指短,小指弯曲。超声心动图示动脉导管未闭。脑电监测示双侧顶、枕导痫性放电。基因组测序及生物信息学分析示患儿ANKRD11基因6号外显子存在一处杂合突变c.316CT,导致蛋白编码提前终止(p.R106X)。此突变未见报道,相关软件预测为致病变异,确诊为KBG综合征。文献复习共检索到28篇,共200例KBG综合征患者,男∶女比1.5∶1,其中71%为ANKRD11基因突变,29%为16q24.3微缺失。KBGS患者临床主要表现为:颅面部畸形(99%),巨齿畸形(84%),智力迟缓(90%),行为问题(60%),骨骼异常(75%),身材矮小(50%),听力异常(32%)等。结论扩充了KBG综合征患者ANKRD11基因突变谱,基因检测有助于该病早期诊断。     

Ductoplasty for an aberrant hepatic duct in a choledochal cyst

The confluence of the right and left hepatic ducts at the hepatic hilum frequently shows normal anatomic variations. Choledochal cysts (CC) are also accompanied by similar variations, and devices for free drainage of bile are occasionally required in biliary reconstruction. We present a CC that had an aberrant posterior branch of the right hepatic duct draining into the distal common hepatic duct. A capacious hepaticoduodenostomy at the hilum was performed after joining the hilar and aberrant ducts.     

Congenital Hydrocephalus in Japan I 969–1982: Secular Trends, Geographical and Social Class Variations

Abstract Nation-wide data in Japan between 1969–1982 on 3,650 cases of fetal death and 2,397 cases of postnatal death caused by congenital hydrocephalus were analyzed. The prevalence rate of congenital hydrocephalus decreased yearly. This reduction is attributed to prenatal detection and selective abortion among fetal deaths, and surgical correction of hydrocephalus postnatally. The prevalence rate per 1,000 births was 0.22 in urban areas and 0.25 in rural areas between 1969–1982, and the difference was significant. The prevalence rate was slightly higher in the southwest part of Japan than in the northeast. Social class variation in the prevalence rate was present.     

Progressive dystonia with marked diurnal fluctuation in a Chinese family

Abstract Two children in a Chinese family with progressive dystonia with marked diurnal variation in symptoms are described. Treatment with L-dopa resulted in complete disappearance of symptoms in one patient and marked improvement in the other patient.     

Congenital Hydrocephalus in Japan 1969–1982: Secular Trends, Geographical and Social Class Variations

ABSTRACT  Nation-wide data in Japan between 1969–1982 on 3,650 cases of fetal death and 2,397 cases of postnatal death caused by congenital hydrocephalus were analyzed. The prevalence rate of congenital hydrocephalus decreased yearly. This reduction is attributed to prenatal detection and selective abortion among fetal deaths, and surgical correction of hydrocephalus postnatally. The prevalence rate per 1,000 births was 0.22 in urban areas and 0.25 in rural areas between 1969–1982, and the difference was significant. The prevalence rate was slightly higher in the southwest part of Japan than in the northeast. Social class variation in the prevalence rate was present.     

The posteriorly tilted dens A normal variation mimicking a fractured dens

The normal dens occasionally can be posteriorly tilted and in such cases, can mimic a fractured, posteriorly tilted, dens. Differentiation of the two conditions depends on: [1] knowledge that this normal variation of the dens occurs, and [2] demonstrating that no fracture exists. In many cases, this latter determination can be accomplished on plain films, but in other cases, laminography is required.     

Exhaled nitric oxide in healthy young children during tidal breathing through a facemask

The aim of this study was to establish reference values and to examine day-to-day and within-day variations of exhaled nitric oxide (eNO) during tidal breathing in healthy children using a newly described method. Exhaled NO was measured on-line and off-line during tidal breathing through a facemask. In a subgroup of children measurements were repeated during the course of a single day and on the same time on three consecutive days. A total of 133 healthy children were included in the study and measurements were obtained from 121 children aged 2-7 yr (61 boys and 60 girls). The geometric mean eNO concentration and 95% CI was 3.9 (3.5-4.2) parts per billion (p.p.b.) for on-line measurements and 3.0 (2.7-3.3) p.p.b. for off-line measurements. Exhaled NO was independent of gender, age, height and weight. The 95% reference intervals (RI) for on-line and off-line measurements were 1.2-8.2 and 1.3-7.1 p.p.b. respectively. Twenty-three children completed measurements of within-day and day-to-day variations, none of which showed significant variation. In conclusion, the established reference values and data on variability within and between days may facilitate the clinical application for measurement of eNO during tidal breathing in young children.     

钼辅因子缺乏症1例临床及遗传学分析

目的探讨钼辅因子缺乏症的临床及遗传学特征。方法回顾分析1例确诊钼辅因子缺乏症患儿的临床资料。结果女性患儿,6月龄,生后即出现喂养困难、抽搐,并逐渐出现小头畸形、痉挛型四肢瘫等。全外显子测序发现患儿MOCS2基因存在c.473TG(p.Leu158*)和c.472_477del(p.Leu158_Lys159del)复合杂合变异,分别遗传自父亲和母亲。按照美国医学遗传学学会指南,c.473TG为致病变异,c.472_477del为可能致病变异。结论患儿被确诊为MOCS2基因杂合变异所致的钼辅因子缺乏症。