新生儿黄疸与胆红素-尿苷二磷酸葡萄糖醛酸转移酶和有机阴离子转运因子2基因突变的关系

目的探讨胆红素-尿苷二磷酸葡萄糖醛酸转移酶(UGT1A1)基因Gly71Arg突变和有机阴离子转运因子2(OATP2)基因Asn130Asp突变与新生儿黄疸发病的关系。方法应用聚合酶链反应-限制性长度多态性方法测定无亲缘关系的汉族新生儿黄疸组与健康对照组的UGT1A1Gly71Arg和OATP2Asn130Asp基因多态性的基因型,并检验两组基因型分布、等位基因频率差异,应用Logistic多元回归分析两种基因突变对新生儿黄疸的OR值和95%CI。结果新生儿黄疸组UGT1A1Gly71Arg和OATP2Asn130Asp基因多态性的基因型分布与对照组差异有统计学意义(χ2=9.47和6.16,P=0.002和0.046),Arg和Asp等位基因频率明显高于对照组(χ2=10.34和6.85,P=0.001和0.009);logistic多元回归分析UGT1A1基因Gly71Arg和OATP2基因Asn130Asp突变对新生儿黄疸的OR值和95%CI分别为2.66(1.38~4.51)和2.32(1.23~3.95)(P=0.011和0.024)。结论UGT1A1基因Gly71Arg和OATP2基因Asn130Asp突变可能参与新生儿黄疸的发病。     

新生儿黄疸与胆红素-尿苷二磷酸葡萄糖醛酸转移酶和有机阴离子转运因子2基因突变的关系

目的 探讨胆红素-尿苷二磷酸葡萄糖醛酸转移酶（UGT1A1）基因Gly71Arg突变和有机阴离子转运因子2（OATP2）基因Asn130Asp突变与新生儿黄疸发病的关系。方法应用聚合酶链反应-限制性长度多态性方法测定无亲缘关系的汉族新生儿黄疸组与健康对照组的UGT1A1Gly71Arg和OATP2Asn130Asp基因多态性的基因型,并检验两组基因型分布、等位基因频率差异,应用Logistic多元回归分析两种基因突变对新生儿黄疸的OR值和95%CI。结果 新生儿黄疸组UGT1A1Gly71Arg和OATP2Asn130Asp基因多态性的基因型分布与对照组差异有统计学意义（χ^2=9.47和6.16,P=0.002和0.046）,Arg和Asp等位基因频率明显高于对照组（χ^2=10.34和6.85,P=0.001和0.009）;logistic多元回归分析UGT1A1基因Gly71Arg和OATP2基因Asn130Asp突变对新生儿黄疸的OR值和95%CI分别为2.66（1.38～4.51）和2.32（1.23～3.95）（P=0.011和0.024）。结论 UGT1A1基因Gly71Arg和OATP2基因Asn130Asp突变可能参与新生儿黄疸的发病。     

新生儿迁延性黄疸与尿苷二磷酸葡萄糖醛酸转移酶基因突变的关系

目的 探讨胆红素-尿苷二磷酸葡萄糖醛酸转移酶(UGT1A1)基因Gly71Arg变异与北京地区汉族新生儿黄疸发病的关系.方法 应用聚合酶链反应-限制性长度多态性方法测定无亲缘关系的北京地区汉族新生儿黄疸[病例组,n=96,总胆红素(307.6±38.5)μmoL/L,未结合胆红素(292.9±35.9)μmoL/L]与健康对照组[n=101,总胆红素(131.2±42.1)μmoL/L,未结合胆红素(126.3±39.7)μmoL/L]UGT1A1 Gly71Arg基因多态性的基因型,并检验二组基因型分布、等位基因频率差异和UGT1A1基因Gly71Arg变异对病例组总胆红素的效应.采用SPSS 10.0软件进行统计学分析,组间差异采用t检验及协方差分析,基因型频率采用χ2检验.结果 病例组新生儿UGT1A1 Gly71Arg基因多态性频率与健康对照组存在明显差异(χ2=9.47 P<0.01),Arg等位基因频率明显高于健康对照组(χ2=10.34 P<0.01).病例组新生儿UGT1A1 Gly71Arg基因多态性Arg等位基因纯合子携带者总胆红素水平明显高于杂合子携带者和非携带Arg等位基因者(Pa<0.001),采用协方差分析校正胎龄和出生体质量影响后,Arg等位基因纯合子携带者总胆红素水平仍明显高于杂合子携带者和非携带Arg等位基因者(Pa<0.001).结论 UGT1A1基因Gly71Arg变异可能是北京地区汉族新生儿黄疸的发病原因之一,该基因多态性Arg等位基因纯合子携带者黄疸更严重.     

UGT1A1基因多态性分析与新生儿高胆红素血症的关系

目的探讨尿苷二磷酸葡萄糖醛酸转移酶1A1(UGT1A1)基因Gly71Arg突变与新生儿高胆红素血症的关系。方法选择2009年6月至2011年4月深圳市第五人民医院出生的新生儿,分为高胆红素血症组(观察组)和对照组。采用突变特异性扩增系统法检测UGT1A1基因Gly71Arg突变。结果观察组168例,对照组157例,UGT1A1基因Gly71Arg突变中A等位基因频率分别为0.27和0.12,差异有统计学意义(χ2=22.58,P<0.05)。与携带G/G基因型新生儿相比,Gly71Arg突变(A/A+G/A)可增加新生儿高胆红素血症的发病风险(OR=2.71,95%CI1.68～4.38)。结论 UGT1A1基因Gly71Arg突变与新生儿高胆红素血症发生相关。     

新生儿重症高胆红素血症与UGTlA1基因多态性的相关性研究

目的探讨尿苷二磷酸葡萄糖醛酸转移酶1A1(UGT1A1)基因G1y71Arg多态性对新生儿重症高胆红素血症的影响。方法选取2014年7月至2015年7月我院收治的重症高胆红素血症新生儿为高胆组,生理性黄疸新生儿为对照组。采用聚合酶链反应扩增UGT1A1基因第一外显子,并对其产物进行DNA测序。结果高胆组和对照组各纳入60例,两组性别、出生体重、日龄、血型、入院时肝功能比较,差异均无统计学意义(P>0.05),入院时总胆红素值比较,差异有统计学意义(P<0.05)。两组UGT1A1基因第一外显子G1y71Arg基因型Arg/Arg、Arg/Gly、Gly/Gly频率分别为43.3%、50.0%、6.7%和3.3%、65.0%、31.7%,基因型分布差异有统计学意义(x~2=31.528,P<0.001);高胆组Gly71Arg中Arg等位基因频率为68.3%,显著高于对照组35.8%,差异有统计学意义(x~2=25.394,P<0.001)。UGT1A1基因Gly71Arg多态性是新生儿高胆红素血症的影响因素(OR=3.864,95%CI2.261~6.604)。结论 UGT1A1基因Gly71Arg多态性可能与新生儿重症高胆红素血症相关。     

新生儿高未结合胆红素血症遗传因素的研究

目的：探讨尿苷二磷酸葡萄糖醛酸转移酶1A1（UGT1A1）Gly71Arg、TATA盒基因突变和葡萄糖-6-磷酸脱氢酶（G6PD）基因突变与新生儿高未结合胆红素血症的关系。方法：UGT1A1 TATA盒、外显子1、外显子5和G6PD基因外显子12经PCR扩增和测序,构建突变样本的克隆,对其进行验证。分析病例组及对照组UGT1A1 Gly71Arg和TATA盒基因多态性频率的差异,应用logistic回归分析基因突变对新生儿高未结合胆红素血症发生的影响。结果：病例组UGT1A1 Gly71Arg基因多态性的基因型分布与对照组比较差异有统计学意义（P0.05）。Logistic回归分析显示UGT1A1 Gly71Arg、TATA盒基因和G6PD基因突变对新生儿高未结合胆红素血症发生的OR值（95％CI）分别为5.468（2.274,12.818）、0.688（0.266,1.778）和5.081（1.070,24.133）。结论：UGT1A1 Gly71Arg和G6PD基因突变可能是新生儿高未结合胆红素血症发生的原因。     

一个Gilbert综合征家系UGT1A1基因突变报告

目的通过对一个Gilbert综合征遗传家系UGT1A1基因突变位点的检测,明确该家系的基因遗传特点。方法提取先证者及其4名家系成员基因组DNA,应用聚合酶链反应(PCR)扩增尿苷二磷酸葡萄糖醛酸转移酶UGT1A1基因的5个外显子、启动子及苯巴比妥增强原件,以琼脂糖凝胶电泳鉴定PCR产物,纯化后直接测序鉴定。同时检测生化指标。结果先证者UGT1A1基因1号外显子第211位的鸟嘌呤(G)突变为腺嘌呤(A),为Gly71Arg纯合突变。其父、兄、祖母均存在Gly71Arg纯合突变,其母为杂合突变。血液生化检测结果证实基因型与表型一致。结论该家系的分子遗传学特征为UGT1A1基因第1外显子Gly71Arg突变。     

胆红素-尿苷二磷酸葡萄糖醛酸基转移酶G71R基因型对广西地区新生儿黄疸程度的影响

目的 探讨胆红素-尿苷二磷酸葡萄糖醛酸基转移酶1A1(UGT 1A1)基因突变对广西新生儿黄疸的影响.方法 收集73例高胆红素血症新生儿及31例健康新生儿外周血,应用突变特异性扩增系统(amplification refractory mutation system,ARMS)法及直接测序法对所有新生儿行UGT1A1基因G71R突变检测,分析胆红素脑病发生率,胆红素峰值及总胆红素(total serum bilirubin,TSB)>20 mg/dl的机会比.结果 (1)本研究人群G71R等位基因频率为0.1915,病例组为0.2329,健康对照组为0.097,病例组的G71R等位基因频率显著高于健康对照组(P<0.05).(2)G71R纯合子的胆红素脑病发病率及72 h的TSB浓度(28.57%,23.12±4.58 mg/dl)均高于野生型组(0%,17.68±2.69 mg/dl),差异有统计学意义(P<0.001).(3)G71R纯合子组中5例的TSB>20 mg/dl,G71R纯合子TSB>20 mg/dl的机会比(odds ratio,OR)为7.955,总体机会比95%可信区间(confidence interval,CI)为(1.349,46.899).结论 G71R突变与本地新生儿黄疸的发病存在相关性.G71R纯合子的胆红素脑病发病率及生后72 h的TSB较对照组及野生型增高.G71R纯合子发生TSB>20 mg/dl的危险性是野生型的7.955倍.     

广西三江县侗族新生儿UGT1A1基因变异分析北大核心CSCD

目的探讨广西柳州三江县侗族新生儿UGT1A1基因变异特点及其与侗族新生儿高胆红素血症发生的关系。方法前瞻性选取2021年1月至2022年1月于三江县人民医院新生儿科诊断不明原因高胆红素血症的新生儿84例为研究对象;另选取同期健康新生儿60例纳入健康对照组。提取两组新生儿外周血基因组DNA,对UGT1A1启动子区TATA盒和外显子1进行PCR扩增并进行基因测序。结果病例组检测出33例G71R错义突变,突变率为39%,A等位基因频率(21%)显著高于健康对照组(10%)(P<0.05)。携带G71R错义突变基因型的侗族新生儿发生高胆红素血症的风险是携带野生型的健康新生儿的2.588倍(P<0.05)。Hardy-Weinberg遗传平衡检验结果提示两组新生儿UGT1A1 G71R位点基因型符合遗传平衡(P>0.05)。结论UGT1A1 G71R突变是三江县侗族新生儿高频基因变异类型,且G71R错义突变与侗族新生儿发生高胆红素血症相关。     

维吾尔族新生儿高未结合胆红素血症UGT1A1基因突变分析

目的研究维吾尔族高未结合胆红素血症新生儿的尿苷二磷酸葡萄糖醛酸转移酶1A1(uridine diphosphate glucuronosyltransterase 1A1,UGT1A1)基因突变情况。方法选取2013—2016年新疆维吾尔自治区人民医院住院治疗的34例高未结合胆红素血症患儿为试验组,选取同期11例生理性黄疸患儿为对照组。提取外周血基因组DNA,扩增UGT1A1基因的编码序列及启动子区,对扩增产物进行测序确定基因突变。结果病例资料中发生UGT1A1基因突变共7种,分别为第1外显子Gly71Arg(G71R),Val674Gly(V225G),第3外显子Pro1091Leu(P364L),Asp1195Asn(D399N),第5外显子Pro1352Leu(P451L),Tyr486Asp(Y486D),TATAA盒TA插入转录突变。其中G71R及TATAA盒TA插入转录突变发生频率最高,但试验组及对照组突变频率差异无统计学意义(χ~2=1.681,P=0.195;χ~2=0.214,P=0.643);在维吾尔族与汉族对照组中G71R突变频率差异无统计学意义(χ~2=0.253,P=0.615),TATAA盒TA插入转录突变频率差异有统计学意义(χ~2=4.675,P=0.031)。结论新疆维吾尔族新生儿中UGT1A1基因突变存在多种类型;TATAA盒TA插入转录突变频率均明显高于当地汉族新生儿。     

胶原成分在儿童系膜增生性肾小球肾炎中的变化

目的观察系膜增生性肾小球肾炎（ＭｓＰＧＮ）系膜区胶原成分的变化。方法应用链菌素亲生物素过氧化酶连接法观察了３０例轻度ＭｓＰＧＮ肾穿刺活组织标本和正常的肾小球系膜区Ⅳ型胶原及其α链（α１、α３、α５链）、Ⅵ型胶原及Ⅰ型胶原的变化。结果（１）正常肾脏组织中，Ⅳ型胶原及其α１（Ⅳ）链分布于系膜区和基底膜，α３（Ⅳ）、α５（Ⅳ）链分布于基底膜，Ⅵ型胶原分布于系膜区、肾小球基底膜和间质，Ⅰ型胶原仅分布于肾间质。（２）在轻度ＭｓＰＧＮ时，系膜区内Ⅳ型胶原及其α１链、Ⅵ型胶原含量较正常对照明显增多（Ｐ＜０．０１）；当系膜区系膜细胞超过４个时，Ⅰ型胶原开始在肾小球内出现，且在硬化肾小球内Ⅰ型胶原均呈阳性；α３（Ⅳ）、α５（Ⅳ）链与正常对照比较无明显变化，硬化肾小球α３（Ⅳ）、α５（Ⅳ）染色呈阳性。结论系膜区胶原成分增多可先于系膜细胞增生，并随系膜细胞增生而增多，间质胶原成分Ⅰ型胶原，不但出现于硬化肾小球内，而且出现于系膜细胞增生较重时     

Breastfeeding perceptions in communities in Mangochi district in Malawi

Aim: To investigate mothers’ perceptions of breastfeeding and influences from their social network. Methods: A cross‐sectional survey was carried out in Mangochi district, Malawi where questionnaire data from 157 rural and 192 semi‐urban mother–infant pairs were obtained. Results: The proportion of mothers who thought that exclusive breastfeeding should last for 6 months and those who reported to have actually exclusively breastfed were 40.1% and 7.5% respectively. Of those who reported practising exclusive breastfeeding for 6 months, 77.5% stated that exclusive breastfeeding should last for 6 months. This opinion was independently associated with giving birth in a Baby‐Friendly facility, OR = 5.22; 95% CI (1.92–14.16). Among the mothers who thought that exclusive breastfeeding should last for less than 6 months, 43.9% reported having been influenced in their opinion by health workers. Infant crying was the most common (62.4%) reason for stopping exclusive breastfeeding. Conclusion: The findings illustrate the positive impact health workers can have, as well as the need to raise awareness of the benefits of exclusive breastfeeding among both health workers and mothers. Furthermore, continued counselling of mothers on how to deal with stressful infant behaviour such as crying may assist to prolong exclusive breastfeeding.     

Cardiomyopathy in children in Ahmedabad

A clinical study and follow up of 20 children with cardiomyopathies upto age of 16 years are presented. The DCM was most common variety followed by RCM and HCM in pediatric age group. SHMD presenting with cardiomyopathy were common in infancy and early childhood. Cardiomyopathies presented most frequently between 2–5 years and 10–16 years age group with DCM having almost equal distribution. Clinical presentation of various types is described, despite of vigorous decongestive and vasodilator treatment in advanced cases, course was rapidly downhill and prognosis is poor in general.     

北京地区2007年儿童A群轮状病毒腹泻的流行病学研究

目的 研究北京地区急性腹泻儿童中A群轮状病毒(RV)感染的流行病学特点.方法 收集2007年4月至12月我院肠道门诊就诊的2039例急性腹泻患儿的粪便标本,采用标记金的A群RV单克隆抗体,以免疫层析双抗体夹心法定性检测A群RV抗原.结果 2039份粪便标本中,621份检测到A群RV,总检出率为30.5%(621/2039),其中男430例(69.2%),女191例(30.8%).RV感染者中,以6个月～2岁年龄段的患儿为最多,共571例(91.9%).检出率以10～12月份最高,均在30%以上,其中高峰出现在11月份,达43.4%.北京地区18个区县的统计数据显示,距市区较近的区县RV抗原检出率较低,边远区县较高.少部分患儿合并肠道细菌感染.结论 A群RV为北京地区2岁以下儿童急性腹泻病的主病原,6个月～2岁婴幼儿是A群RV的易感人群,10～12月份为北京地区的流行高峰.在流行季节对肠道细菌感染患儿常规进行A群RV抗原检测有助于避免漏诊和进行更合理的治疗.     

Achalasia in siblings in infancy

Achalasia is rare in children, more so familial. We report two siblings with familial achalasia who presented in their infancy with vomiting and failure to thrive. Achalasia can be misdiagnosed as upper gastrointestinal obstruction as happened in one of our siblings. Esophageal contrast roentgenography is diagnostic. Both the children were treated successfully by transabdominal esophagomyotomy with fundoplication.     

哮喘大鼠气道重塑中尾加压素-的表达变化

目的：研究哮喘大鼠气道重塑血清和支气管肺泡灌洗液（BALF）中尾加压素 Ⅱ（U-II）含量的变化及其作用。方法：32只雄性Sprague-Dawley大鼠随机分为正常对照组、哮喘2周组、哮喘4周组和哮喘8周组,每组8只。以卵清白蛋白(OVA)致敏与激发建立哮喘大鼠气道重塑模型,图像分析技术测量大鼠支气管壁总面积和平滑肌面积,计算单位基底膜周径(Pbm)的支气管壁厚度(Wat)和平滑肌厚度(Wam),ELISA法测定血清和BALF中U-II的含量。结果：哮喘各组Wat及Wam均明显高于正常对照组（P<0.01）;哮喘组血清和BALF中U-II含量均显著高于正常对照组（P<0.01）,其中哮喘8周组血清和BALF中U-II含量显著高于哮喘4周组和哮喘2周组（P<0.01）,哮喘4周组也显著高于哮喘2周组（P<0.01）。各组大鼠BALF中的U-II含量与Wat及Wam呈正相关,BALF与血清中U-II含量亦呈正相关。结论：哮喘大鼠气道重塑血清和BALF中U-II含量增加;且U-II含量的变化与气道重塑相关。［中国当代儿科杂志,2010,12（4）：287-289］     

Poisoning in children in Japan

The Japan Poison Information Centre (JPIC) received 31510 inquiries about poisoning in children under 6 years old being exposed to poison in the fiscal year 1995. The most frequently implicated products were tobacco (20%) and the peak age for ingestion of household products was 1 year and younger (83.3%). Especially, the inquiries related to children less than 1 year old were 35.7% of the cases. In contrast, the American Association of Poison Control Centers (AAPCC) data showed that the most common poisonings were due to pharmaceutical products and the inquiries related to children less than 1 year old were only 12.1%. The objective of this report was to find out the poison exposure in children in Japan and to compare the data with that of AAPCC.     

转流术治疗小儿精索静脉曲张

目的 采用转流术治疗小儿精索静脉曲张，重新建立精索静脉通道，使静脉回流受阻立即得到改善，消除因睾丸淤血而造成的损害，以利睾丸的正常发育。方法 对28例30侧(左侧26例，双侧2例)精索静脉曲张与腹壁下静脉进行吻合，通过腹壁下静脉，髂静脉转流，手术在放大镜下应用显微外科技术进行，其中28侧用精索静脉主干，2侧结扎一条属支，用另一条静脉进行吻合。结果 通畅率为100％。术后扩张迂曲静脉团消失，阴囊下坠感消失。术后随访24例，时间为3个月-10年。除1例二次手术证实为一条静脉属支漏扎而复发外，另23例全部治愈。结论 精索静脉曲张转流术效果明显优于结扎术，可减少因睾丸淤血对其造成的进一步损害，且术后复发率低。     

Rotavirus infection in children in Japan

Currently, a high morbidity of rotavirus diarrhea has been seen in children in developed and developing countries. Improvement of the vaccines is necessary in order to reduce the burden of diarrhea caused by rotavirus. A survey of rotavirus infection from diarrheal stool specimens in children of seven regions in Japan was conducted from 1984 to 1999. The present study discusses the survey results and reviews the national and international data of more than 23 papers and congress proceedings about rotavirus infection in Japan. We analyze the prevalence of rotavirus infection in acute diarrheal in- and outpatients, the distribution of rotavirus G-serotypes and surveillance data for seasonality and age groups in Japan. The data indicated that rotavirus is the most important cause of diarrhea in Japan among young children, with the prevalence ranging from approximately 9.7 to 88%. The most common rotavirus strains belonged to serotype G1, specifically since 1993. Serotypes G2, G3 and G4 had also been documented to be predominantly based in the area and year before 1992. However, untypeable rotavirus strains had been found each year, with a prevalence up to 56.7% which suggests that rare serotypes (except G1-4) or new serotypes might exist. Unexpectedly, in Tokyo and Sapporo from 1998 to 1999, G9 was found to be the first most prevailing serotype with a high prevalence of 52.9 and 71.4%, respectively. Despite these data from different geographic areas, the year under investigation was relatively clear in respect to seasonality, with a peak of rotavirus activity in late winter (February) through early spring (March). Age distribution had also characterized that the infection was predominant among children aged 1-2 years of age, although it was also common in children of 2-3 years. In addition, mixed infection with bacteria was documented.