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中华实用儿科临床杂志
中华实用儿科临床杂志

郭学鹏

半月刊

2095-428X

syqk@xxmu.edu.cn

0373-3029144，3831456

453003

河南省新乡市新乡医学院

中华实用儿科临床杂志/Journal Journal of Applied Clinical PediatricsCSCD北大核心CSTPCD
查看更多>>本刊创刊20年来，严格遵守国家的出版法规及条例，执行出版编辑规范，始终坚持突出实用为主，理论联系实践，注重基础与临床相结合，报道儿科领域新的科研成果、新理论、新技术、新进展，为促进我国儿科医学领域的学术交流服务为办刊宗旨。2005年本刊的总被引频次1417，在18种妇、儿科医学类期刊中列第4位，在1606种中国科技论文统计源期刊中列第79位；影响因子0.659，在18种妇、儿科医学类期刊中列第6位，在1606种中国科技论文统计源期刊中列第221位；即年指标0.155,在8种儿科学类期刊中仅次于《中华儿科杂志》，位居第2位，其他学术期刊指标均较去年明显提高。目前已连续四次进入北京大学图书馆主编的《中文核心期刊要目总览》、列入中国科技论文统计源期刊（中国科技核心期刊），2003年被俄罗斯《文摘杂志》收录,2005年又被美国《化学文摘》收录。2004年被评为河南省优秀期刊。我刊已被中国生物医学文献数据库（CBMdisc）、Quick全文资料管理系统（FTME）、中文科技期刊数据库、中国学术期刊（光盘版）、万方数据库和美国《化学文摘》、俄罗斯《文摘杂志》、《中国医学文摘：儿科学分册》等多种权威性数据库与文摘期刊作为固定收录对象。
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    人类免疫缺陷病毒阴性儿童马尔尼菲篮状菌感染11例外周血免疫学特征及基因变异分析

    樊慧峰曾森强黄莉李甜...
    44-48页
    查看更多>>摘要：目的 探讨人类免疫缺陷病毒(HIV)阴性儿童马尔尼菲篮状菌(TM)感染的外周血免疫学特征及基因变异结果，以提高儿童TM感染的诊疗水平。 方法 回顾性分析2010年1月至2022年12月广州医科大学附属广州市妇女儿童医疗中心诊治的11例TM感染的HIV阴性患儿的临床资料，包括临床特征、外周血免疫学特征以及基因检测结果。 结果 11例患儿中，男9例，女2例，中位年龄19个月。常见的临床表现为发热(10/11，90。91%)、咳嗽(10/11，90。91%)和肝大(7/11，63。64%)。常见的严重并发症包括急性呼吸窘迫综合征(7/11，63。64%)和脓毒性休克(5/11，45。45%)。最终2例患儿死亡。6例患儿(6/11，54。55%)病程中出现一过性中性粒细胞减少；4例分别出现淋巴细胞减少和免疫球蛋白(Ig)G降低，6例出现IgA降低，3例出现IgM降低，5例出现IgE降低，3例出现IgM升高，2例出现IgE升高。1例T细胞和B细胞计数均下降。所有患儿进行基因检测，均发现基因突变，8例患儿结合基因突变结果明确诊断为出生免疫错误(IEIs)，其中4例发现CD40LG基因突变诊断为CD40配体缺陷，1例发现IL2RG基因突变诊断为严重联合免疫缺陷，1例发现STAT3基因自发突变结合临床表现诊断为信号传导和转录激活因子3(STAT3)相关高IgE综合征，1例发现STAT1基因突变诊断为功能获得型信号传导和转录激活因子1(STAT1)免疫缺陷，1例发现CARD9复合杂合突变诊断为家族性念珠菌病2型。另3例中2例患儿基因变异为可能致病，1例患儿为致病未明确。 结论 TM感染在HIV阴性儿童中临床表现不典型，严重并发症多，病死率高。早期识别并积极进行基因检测，发现潜在IEIs，有助于改善患儿远期预后。 Objective To explore the immunological characteristics of peripheral blood and genetic variations of 11 immunodeficiency virus(HIV)-negative children with Talaromyces marneffei(TM) infection， thus enhancing the diagnostic and therapeutic levels of TM infection in children。 Methods Clinical data of 11 HIV-negative children with TM infection who presented to Guangzhou Women and Children′s Medical Center， Guangzhou Medical University from January 2010 to December 2022 were retrospectively analyzed， including clinical characteristics， peripheral immune profile and genetic test results。 Results A total of 11 HIV-negative children with TM infections were recruited， involving 9 males and 2 females with a median age of 19 months。The main clinical manifestations were fever (10/11， 90。91%)， cough (10/11， 90。91%) and hepatomegaly (7/11， 63。64%)。 Common severe complications included acute respiratory distress syndrome (7/11， 63。64%) and septic shock (5/11， 45。45%)。 Finally， 2 children died。Transient neutropenia occurred in 6 cases (6/11， 54。55%)， and lymphocytopenia combined with serum immunoglobulin (Ig) G decrease was observed in 4 cases (4/11， 36。36%)。 IgA decrease， IgM decrease， IgE decrease， IgM increase and IgE increase were observed in 6 cases， 3 cases， 5 cases， 3 cases， and 2 cases， respectively。Both T-lymphocyte and B-lymphocyte counts decreases was observed in 1 case。Genetic testing was performed in all recruited children， and genetic variations were detected in all of them。Inborn errors of immunity (IEIs) were diagnosed in 8 cases， including 4 diagnosed as CD40 ligand deficiency with CD40LG variation， 1 of severe combined immunodeficiency with IL2RG variation， 1 of Signal transduction and activator of transcription 3(STAT3)-hyper-IgE syndrome with STAT3 variation and 1 of familial candidiasis type 2 with CARD9 compound heterozygous mutations。In the other 3 cases， 2 carried genetic variations that were likely pathogenic， and 1 case was considered uncertain。 Conclusions The clinical manifestations of HIV-negative children with TM infection are atypical， which is characterized as serious complications and high mortality。Early identification and gene testing to detect potential IEIs can improve the prognosis of TM infection。

    儿童马尔尼菲篮状菌免疫学特征基因变异出生免疫错误

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    A族链球菌基因组数据库建设及前噬菌体分布分析

    孟凡亮向才鑫张建中尤元海...
    49-53页
    查看更多>>摘要：目的 通过对已报道的A族链球菌(GAS)全基因组数据进行梳理和生物信息学分析，从基因组大数据中提取前噬菌体信息，并对其在基因组中的存在状态及部分前噬菌体的基因组成进行分析，了解GAS种群内前噬菌体分布特点。 方法 回顾性研究。收集下载GenBank数据库中截至2020年5月发布的GAS基因组组装序列，整理菌株重要背景信息建立本地化基因组数据库。利用生物信息学软件构建GAS全基因组系统发生树，进行核心基因组分析，并对基因组中潜在的前噬菌体及其完整性进行预测，获得前噬菌体分布特征。统计数据库中基因型种类、核心基因数量及前噬菌体的数量、长度和携带率。 结果 建立了包含2 529株GAS基因组序列的数据库，涵盖140种血清型(emm基因型)。分离地点主要包括东亚、欧洲、美洲、大洋洲19个国家和地区。分离菌株疾病背景主要分为侵袭性感染、非侵袭性感染和免疫继发症3类；共鉴定出1 005个核心基因，这些基因在95%以上菌株中均存在；对其中1 798条序列分析发现，有1 366条序列存在1个或以上完整的前噬菌体，携带率为76。0%。每株菌携带完整前噬菌体的数量范围为0～6个，长度范围为32。8～62。6 kb，主要分布在30～40 kb。中国菌株近些年优势克隆中存在的前噬菌体主要为phiHKUssa、phiHKUvir和phiHKU488，主要携带speC、spd1和ssa 3种毒力基因。 结论 前噬菌体在GAS基因组中分布广泛，可能在其种群优势克隆演变和扩张过程中发挥重要作用，进而重塑特定emm基因型内部种群结构。GAS基因组数据库的建立为GAS病原监测提供了重要数据支撑。 Objective To illustrate the characteristics of the distribution of prophages among the Group A Streptococcus(GAS) by mining the existing whole genome sequencing of the GAS， performing bioinformatic analyses， extracting data about prophages， and analyzing the state of prophages in the genome and genetic composition of some prophages。 Methods It was a retrospective study。Genome assembly sequences of GAS reported in GenBank till May 2020 were collected， and the important background information of these strains was sorted out to create a local genomic database。A phylogenetic tree of the whole genome of GAS was conducted using the bioinformatics software。The core genome was analyzed， and potential prophages and their integrity in the genome were predicted to obtain the characteristics of the distribution of prophages。Genotype types， number of core genes， and number， length and carrying rate of prophages in the database for GAS were analyzed。 Results A database containing the genome sequence of 2 529 GAS strains was established， involving 140 emm genotypes。These strains were isolated from 19 countries from East Asia， Europe， America and Oceania。Stratified by the disease background， these strains were mainly divided into invasive infection， non-invasive infection and immune sequelae。Prophage analysis of 1 798 genomes showed that at least one complete prophage was detected in 1 366 (76。0%) genomes。The number of complete prophages of each strain ranged from 0 to 6， and the length ranged from 32。8 to 62。6 kb， which was mainly 30-40 kb in length。The phiHKUssa， phiHKUvir and phiHKU488 were the most common prophages present in dominant clones circulated in China in recent years， which mainly carried virulence genes like the speC， spd1 and ssa。 Conclusions Prophages are widely distributed in the genome of GAS， which are of great significance in the evolution and expansion of dominating clones and thus reshape the population structure within the emm genotype。The establishment of a local genome database provides important baseline data for molecular epidemiological surveillance。

    基因组A族链球菌种群结构数据库噬菌体

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    儿童癫痫持续状态严重程度评分量表与PEDSS评分量表对癫痫持续状态患儿近期预后评估的应用价值

    牛杰朝张瑜王建东李海英...
    54-58页
    查看更多>>摘要：目的 验证并比较儿童癫痫持续状态严重程度评分量表(STEPSS)与PEDSS评分量表对癫痫持续状态(SE)患儿近期预后评估的应用价值。 方法 回顾性分析2020年1月至2022年12月在郑州大学第一附属医院住院治疗的152例SE患儿的临床资料。根据STEPSS与PEDSS评分量表对患儿进行评分并预测患儿预后，通过绘制2个量表各自的受试者工作特征(ROC)曲线，计算曲线下面积(AUC)，找出理想界值，计算界值对应的敏感度、特异度，以此来验证并比较STEPSS与PEDSS评分量表对SE患儿预后评估的应用价值。 结果 152例SE患儿中，男90例，女62例；年龄1个月至15岁[(5。8±3。9)岁]。预后良好112例，预后不良40例，其中死亡13例。在预测死亡方面，STEPSS与PEDSS评分量表的AUC分别为0。908(95%CI：0。848～0。967)、0。887(95%CI：0。831～0。942)，理想界值均为4，敏感度分别为0。740、0。846，特异度分别为0。745、0。835。2个评分量表比较差异无统计学意义(P>0。05)。在预测不良结局方面，STEPSS与PEDSS评分量表的AUC分别为0。869(95%CI：0。800～0。937)、0。926(95%CI：0。873～0。979)，理想界值均为3，敏感度分别为0。827、0。900，特异度分别为0。732、0。866，2个评分量表比较差异有统计学意义(P<0。05)。 结论 与STEPSS评分量表相比，PEDSS评分量表预测SE患儿的近期治疗结局具有更高的应用价值，可作为评估SE患儿预后的常规方法。 Objective To validate and compare the value of the Status Epilepticus in Pediatric Severity Score (STEPSS) versus PEDSS in assessing the short-term prognosis of children with status epilepticus (SE)。 Methods Clinical data of 152 children with SE hospitalized at the First Affiliated Hospital of Zhengzhou University from January 2020 to December 2022 were retrospectively analyzed。According to the STEPSS and PEDSS scores， children with SE were scored and their prognosis was predicted。Receiver operating characteristic (ROC) curves of the 2 scales in assessing the short-term prognosis of SE in children were plotted， and the area under the curve (AUC)， optimal cut-off， sensitivity and specificity were calculated， thus validating and comparing the value of the STEPSS versus PEDSS in assessing the short-term prognosis of children with SE。 Results Of the 152 children with SE， 90 were male and 62 were female， with the age of (5。8±3。9) years (1 month to 15 years)。 There were 112 cases with good prognosis and 40 cases with poor prognosis， involving 13 deaths。The AUC of STEPSS and PEDSS scores in predicting the death in children with SE were 0。908(95%CI: 0。848-0。967) and 0。887(95%CI: 0。831-0。942)， respectively， both with the optimal cut-off value of 4。The sensitivity of STEPSS and PEDSS scores in predicting the death in children with SE were 0。740 and 0。846， respectively， and the specificity were 0。745 and 0。835， respectively。There was no significant difference in predicting the death in children with SE between the 2 scales (P>0。05)。 In predicting adverse outcomes， the AUC of the STEPSS and PEDSS scores were 0。869(95%CI: 0。800-0。937) and 0。926(95%CI: 0。873-0。979)， respectively， both with the optimal cut-off value of 3。The sensitivity of STEPSS and PEDSS scores in predicting adverse outcomes in children with SE were 0。827 and 0。900， respectively， and the specificity were 0。732 and 0。866， respectively。There was significant difference in predicting the adverse outcomes in children with SE between the 2 scales (P<0。05)。 Conclusions Compared with the STEPSS， the PEDSS has a higher application in predicting the short-term treatment outcome of children with SE， which can be used as a routine method to assess the prognosis of children with SE。

    癫痫持续状态儿童癫痫持续状态严重程度评分量表PEDSS评分量表近期预后评估儿童

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    脓疱病儿童A族链球菌 emm分型、毒力基因及菌株分离部位相关性研究

    禹定乐梁云梅卢清华纪丽丽...
    59-64页
    查看更多>>摘要：目的 探讨A族链球菌(GAS)emm基因型、毒力基因及菌株分离部位之间的关系。 方法 回顾性研究。采集2006年至2008年就诊首都医科大学附属北京儿童医院的脓疱病患儿标本进行GAS分离鉴定，从16例脓疱病患儿中共分离出24株GAS菌株，其中7对菌株分别分离自7例患儿的咽喉和皮肤，1对菌株分离自1例患儿的外阴和皮肤，其余8株GAS分离自8例患儿的皮肤脓液样本。应用聚合酶链反应方法检测emm基因型及携带13种毒力基因(speA、speB、speC、speF、speG、speH、speI、speJ、speK、speL、speM、smeZ和ssa)情况，对GAS菌株emm基因型、毒力基因及分离部位的关系进行分析。 结果 本研究检测出4种emm基因型[emm1。0(15/24)、emm12。0(4/24)、emm22。0(2/24)、emm160。0(1/24)]及1种亚基因型[emm12。19(2/24)]。13种毒力基因speA、speB、speC、speF、speG、speH、speI、speJ、speK、speL、speM、smeZ及ssa的携带率分别为58。3%、100%、91。7%、100%、50。0%、12。5%、54。2%、66。7%、16。7%、25。0%、12。5%、100%和91。7%。所有菌株均携带5～11种毒力基因，并全部携带speB、speF及smeZ。在不同emm基因型的菌株中，speA与speJ的携带率比较，差异均有统计学意义(均P<0。05)。在皮肤来源菌株和咽喉来源菌株之间，包含5个emm1。0型配对的菌株，其毒力基因分布比较，差异均无统计学意义(均P>0。05)。 结论 脓疱病儿童GAS的毒力基因分布与emm基因型密切相关，但与分离部位无关。 Objective To investigate the correlation of the emm genotypes and virulence genes with the isolation sites of Group A Streptococcus (GAS)。 Methods It was a retrospective study。The specimens were collected from children with impetigo in Beijing Children′s Hospital， Capital Medical University from 2006 to 2008 for GAS isolation and identification。A total of 24 GAS strains were isolated from 16 children with impetigo， among which 7 pairs of strains were isolated from the throat and skin of 7 children， and 1 pair of strains was isolated from the vulva and skin of one child， and the remaining 8 GAS strains were isolated from the skin pus samples of 8 children。Polymerase chain reaction was applied to detect the emm genotypes and 13 virulence genes (speA， speB， speC， speF， speG， speH， speI， speJ， speK， speL， speM， smeZ and ssa)。 The correlation of the emm genotypes and virulence genes with the isolation sites of GAS strains was analyzed。 Results In this study， four emm genotypes were detected， including emm1。0 (15/24)， emm12。0 (4/24)， emm22。0 (2/24) and emm160。0 (1/24)， and one subtype emm12。19 (2/24) was detected as well。The carrying rates of 13 virulence genes speA， speB， speC， speF， speG， speH， speI， speJ， speK， speL， speM， smeZ and ssa were 58。3%， 100%， 91。7%， 100%， 50。0%， 12。5%， 54。2%， 66。7%， 16。7%， 25。0%， 12。5%， 100% and 91。7%， respectively。All strains carried 5 to 11 virulence genes and they all carried speB， speF and smeZ。There were significant differences in the carrying rate of speA and speJ among the strains with different emm genotypes (all P<0。05)。 There was no significant difference in the distribution of virulence genes between skin isolates and pharyngeal isolates， including the 5 pairs of strains carrying theemm1。0 genotype (all P>0。05)。 Conclusions The distribution of virulence gene of GAS in children with impetigo is significantly correlated with the emm genotype， rather than the isolation site。

    脓疱病A族链球菌emm基因分型毒力基因超抗原

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    糖原贮积症Ⅱ型诊断及特异性治疗研究现状

    王盼刘颖超钱素云廉珍珍...
    65-68页
    查看更多>>摘要：糖原贮积症Ⅱ型(GSDⅡ)是一种罕见的常染色体隐性遗传病。婴儿型患者常存在进行性心肌肥厚、肌无力，最终死于心肺功能衰竭。该病主要通过酶学及基因学检测进行筛查及确诊。酶替代治疗为该病目前唯一获得批准的治疗方式，可有效改善患者受累器官功能，提高生存率。基因疗法、底物减少疗法等也在进行基础或临床研究。现总结近年来国内外GSDⅡ的诊治研究现状，重点对特异性治疗尤其酶替代治疗的疗效影响因素、给药方案、提高疗效方式等进行综述。 Glycogen storage disease type Ⅱ (GSDⅡ) is a rare autosomal recessive disorder。Infant onset of GSDⅡ usually accompanies progressive cardiac hypertrophy and muscle weakness， and eventually dies of cardiopulmonary failure。GSDⅡ is mainly screened and diagnosed by enzymatic and genetic tests。Enzyme replacement therapy (ERT) is the only currently approved treatment of GSDⅡ， which can effectively improve the function of the affected organs and the survival。Gene therapy and substrate reduction therapy for GSDⅡ are also undergoing basic or clinical research。This review summarizes the current research status of the diagnosis and treatment of GSDⅡ at home and abroad， focusing on the influencing factors for the efficacy of specific treatment (especially ERT)， dosing regimen， and ways to improve the efficacy。

    糖原贮积症Ⅱ型庞贝病酶替代治疗基因治疗重组人α-葡萄糖苷酶

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    低髓鞘化脑白质营养不良的基因研究进展

    庞可心朱敏汤健丁乐...
    69-73页
    查看更多>>摘要：低髓鞘化脑白质营养不良(HLDs)是一组以中枢神经系统髓鞘形成减少为主要特征的神经退行性疾病，其临床表现多样，患者常有精神运动发育迟缓、运动障碍等问题，部分患者存在癫痫、小头畸形等其他临床表现。目前尚无特异性治疗方案，大部分患者预后不良。近年来，随着基因筛查在临床上的广泛应用，发现了诸多与HLDs相关的致病基因。明确其发病机制和临床表型变得尤为重要。 Hypomyelinating leukodystrophies (HLDs) are a group of neurodegenerative diseases characterized by decreased myelination in the central nervous system， with diverse clinical manifestations like psychomotor retardation and dyskinesia。Some HLDs patients have epilepsy， microcephaly and other clinical manifestations。At present， there is no specific treatment of HLDs， and the prognosis is usually poor。At present， with the wide application of gene screening in clinical practice， many pathogenic genes related to HLDs have been found。It is particularly important to clarify the pathogenesis and clinical phenotypic changes of HLDs。

    基因脑白质营养不良,低髓鞘化神经退行性疾病研究进展

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    食物过敏的精准诊治研究进展

    张韦胡燕范艳芬
    73-76页
    查看更多>>摘要：食物过敏的发病率逐年升高，给患者及其家庭和社会带来了沉重的负担。近年来，通过明确疾病的临床表型、内型和生物标志物对食物过敏患者进行精准治疗已成为新兴的方法。现就食物过敏的精准诊治研究进展作一综述。 The incidence of food allergy is annually increasing that brings a heavy burden to patients， their families and the society。In recent years， precise treatment of food allergy by clarifying the clinical phenotype， endotype and biomarkers of the disease has become an emerging approach。This review summarizes advances in precise diagnosis and treatment of food allergy。

    食物过敏精准医学诊断治疗

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    细胞焦亡在小儿外科疾病中的研究进展

    赵肖欢金祝廉珍珍
    77-80页
    查看更多>>摘要：细胞焦亡是一种伴随着炎症反应的程序性细胞死亡方式，主要通过炎症小体或脂多糖介导半胱天冬氨酸酶-1/4/5/11活化，造成包括Gasdermin D在内的多种Gasdermin家族成员发生剪切，细胞焦亡过程中伴随着大量促炎因子的释放，从而引起各种疾病中的炎症反应。目前，细胞焦亡在小儿外科疾病中的研究尚少。现总结细胞焦亡在小儿外科疾病(先天性巨结肠、胆道闭锁、新生儿坏死性小肠结肠炎、肿瘤等)中的研究进展，发现部分小儿外科疾病的发生发展过程中均有细胞焦亡的参与，对于细胞焦亡中具体发生机制和信号通路的研究将有助于这些小儿外科疾病的早期诊断和治疗。 Pyroptosis is a kind of programmed cell death accompanied by inflammatory responses， which is mainly induced by the Caspase-1/4/5/11 activated mediated via inflammasomes or lipopolysaccharide。Pyroptosis causes the cleavage of various Gasdermin family members， including Gasdermin D， in which a large number of pro-inflammatory factors are released to cause inflammatory responses in various diseases。At present， pyroptosis has not been extensively analyzed in pediatric surgical diseases。This review summarizes the research progress of pyroptosis in pediatric surgical diseases like Hirschsprung′s disease， biliary atresia， neonatal necrotizing enterocolitis， and tumors。It is found that pyroptosis is involved in the occurrence and development of pediatric surgical diseases。The research on the specific mechanism of pyroptosis in pediatric surgical disease and involved signaling pathways contributes to the early diagnosis and treatment of some pediatric surgical diseases。

    先天性巨结肠胆道闭锁新生儿坏死性小肠结肠炎肿瘤细胞焦亡儿童

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    更正

    80页
    查看更多>>摘要：我刊2023年第38卷第11期刊登的《儿童呼吸道感染家庭用药指导专家共识》一文中，第824页表1最后一列盐酸氨溴索与特布他林的配伍结果更正为"C"，盐酸氨溴索与布地奈德的配伍结果更正为"C"。
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