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关于统计学符号的书写说明有关统计学符号的使用,请按国家标准GB3358-82《统计学名词及符号》规定,符号一律用斜体表达。样本的算术平均数用小写x,不用大写X,也不用M(以免与中位数混淆)。标准差用s,而不用SD。标准误用Sx,不用SE,也不用SEM。t检验用小写斜体t。方差检验用大写斜体F。卡方检验用希文小写x2。相关系数用英文小写斜体r。自由度用希文小写斜体v。样本数用英文小写斜体n。相对危险度用RR。概率用大写P。概率数值用小数表示,不用%号,如P<0.05,不用P<5%。请作者在投稿时注意按本要求撰写稿件。本刊编辑部作者简介书写说明文…     

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关于参考文献标引格式的要求本刊文献著录根据GB7714-2005《文后参考文献著录规则》采用顺序编码制著录。依照其在文中出现的先后顺序用阿拉伯数字加方括号标出。正文中指明原始文献作者姓名时,角码应标注在作者姓名之右上角;正文中未指明作者或非原始文献作者时,角码应标注在句末末字的右上角;正文直接叙述其文献序号时不在右上角标注(如:操作按文献[1]所示)。参考文献表按引用先后顺序用阿拉伯数字加角码标出排列于文末,并在题名或书名后,分别加用[J]或[M]。参考文献表中的作者姓名:1～3名全部列出,3名以上只列前3名,后面加“等”或其他…     

读者·作者·编者

如何写好论文摘要论文摘要又称文摘,是医学科研论文的重要组成部分,它是以提供文献内容梗概为目的,不加评论和补充解释,简明、确切地记述文献重要内容的短文。摘要应具有独立性和自明性,并拥有与文献同等量的主要信息,即不需阅读全文,就可获得重要的信息。摘要通常置于文题之后     

编者·作者·读者

为扩大本刊论文的国际影响,请作者投稿时提供论文的中英文摘要,并将文题、文内表格及图片的标题、作者及作者单位翻译成英文。本刊常年办理杂志征订手续,订全年杂志,可送继续医学教育学分15分。凡逾期没有办理邮局订购杂志的读者可与本刊编辑部联系,联系人:贾佩君,联系地址:湖南省长沙市梓园路86号,临床小儿外科杂志编辑部(湖南省儿童医院内),邮政编码410007,E-mail:china_jcps@sina.com或569456950@qq.com,欢迎广大读者踊跃订阅。     

Respiratory phenotypes of neuromuscular diseases: A challenging issue for pediatricians

Neuromuscular disease (NMDs) encompass a heterogeneous group of genetic disorders, with respiratory problems of variable intensity and progression described at any pediatric age, from infancy to adolescence, and they are largely associated with significant lifelong morbidity and high mortality. Restriction of breathing, impaired gas exchange, decline of lung function and sleep disordered breathing progressively develop because of muscular weakness and culminate in respiratory failure. Depending on the disease progression, airways manifestations can take weeks to months or even years to evolve, thus depicting two major respiratory phenotypes, characterized by rapid or slow progression to respiratory failure. Assessing type and age at onset of airways problems and their evolution over time can support pediatricians in the diagnostic assessment of NMD. In addition, knowing the characteristics of patients' respiratory phenotype can increase the level of awareness among neonatologists, geneticists, neurologists, pulmonologists, nutritionists, and chest therapists, supporting them in the challenging task of the multidisciplinary medical care of patients. In this review we examine the issues related to the pediatric respiratory phenotypes of NMD and present a novel algorithm that can act as a guide for the diagnostic agenda and the key preventive or therapeutic interventions of airways manifestations. With prolonged survival of children with NMD, the advent of neuromuscular respiratory medicine, including accurate assessment of the respiratory phenotype, will help physicians to determine patients’ prognoses and to design studies for the evaluation of new therapies.     

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??Objective??To explore the value of clinical manifestations and routine examinations for the diagnosis of intrathoracic tuberculosis in children. Methods??The medical records of children under 16 years of age due to intrathoracic diseases in Shanghai Pulmonary Hospital affiliated to Tongji University School of Medicine from January 2009 to December 2011 were collected. According to the final diagnosis??the patients were divided into 2 groups??intrathoracic tuberculosis and non tuberculosis. The clinical manifestations and routine auxiliary examination results of the 2 groups were retrospectively analyzed. The children were divided according to age??10 years and over 10 years old in 2 groups??and the clinical data were also compared. Results????1??Pathological diagnoses were confirmed at 72.30% of proportion at whole patients??70.73% in TB group. The positive rate of tuberculosis bacteriology was 21.85% in TB group. ??2??The middle course of history accounted for 56.30% in TB children. At the onset of illess??the proportion of fever and predisposition to tuberculosis??positivity of tuberculin skin test??TST?? and serumal tuberculosis antibody??and average value of ESR??CRP??PLT and D-Dier in blood were significantly higher in TB group than those in non-TB group. ??3??About 59% of patients in the non-TB group were cured or were markedly improved by antibiotic treatment??which was effective in 10% of the TB group. ??4??Diagnostic accordance rate by radiology was 53.36% and the rate of misdiagnosis as tuberculosis accounted for 11.71% in non-TB group. Conclusion??Clinical features combined with medical history and laboratory results are helpful for the identification of tuberculosis in children under 16 years old.     

以临床表现筛查阻塞性睡眠呼吸暂停综合征在儿科中的应用

目的探讨以临床病史、体格检查及颈部侧位X线影像学检查筛查儿童阻塞性睡眠呼吸暂停综合征(obstructivesleepapneasyndrome,OSAS)的可行性。方法在门诊收集有打鼾症状的儿童病例,进行问卷调查、体格检查以及颈部侧位X线检查,以多导睡眠监测仪(PSG)的监测结果作为诊断标准,将患儿分成OSAS和非OSAS组,在两组患儿之间进行临床资料的比较。结果51例鼾症儿童中确诊为OSAS32例。两组患儿的年龄、性别比以及体块指数差异无显著性,而临床表现之间差异有显著性(P<0.001)。如果患儿有8条以上的临床症状、体格检查或影像学的异常,则其患有OSAS的可能性增加,敏感性74%,特异性63%。结论以病史、体格检查及颈部侧位X线检查的结果对患儿进行临床评估,以初步筛查OSAS是可行的。但还需要增加样本量,并改进临床资料的收集工作,以提高筛查的敏感性和特异性。     

遗传性肾病综合征的基因诊断

近年来,遗传性肾病综合征相关基因的陆续发现或为肾脏病学领域的一个突破性进展,目前约有18个与遗传性肾病综合征有关的基因已经被克隆、定位,相信将会有更多的基因陆续被发现,这些基因是大多数遗传性肾病综合征的病因。遗传性肾病综合征的分子生物学进展有助于该病诊断和治疗。遗传性肾病综合征的治疗方案复杂,常规治疗方案无效(包括激素和免疫抑制剂),因此很有必要理解并明确该类疾病的定义、分子遗传学分类、临床特征以及肾脏病理等相关进展。该文综述了遗传性肾病综合征的常见分子生物学、临床及病理特征,以期建立遗传性肾病综合征的基因诊断思路。     

常见儿童呼吸道病毒感染性疾病的临床特征

儿童急性呼吸道感染是临床的常见病, 是导致儿童死亡的一个重要原因, 病毒感染在其中占有重要地位。绝大多数病毒感染无特异性临床特征, 但也有部分病毒感染临床表现特征性较强。熟悉不同病毒感染的临床特征对于临床早期及时的明确病原以及合理用药有着深远的意义。     

临床特征对儿童慢性咳嗽常见病因诊断的价值

目的 对慢性咳嗽常见病因的临床特征进行研究,分析其对各病因诊断的价值.方法 选取2008年1月 - 2009年12月门诊就诊的慢性咳嗽初诊患儿496例,按慢性咳嗽诊断程序作出慢性咳嗽初步诊断并按时随访,根据随访患儿治疗效果得出最终诊断.结果 496例患儿中感染后咳嗽(PIC)69例,咳嗽变异性哮喘(CVA)和变应性咳嗽(AC)219例,上气道咳嗽综合征(UACS)139例.CVA的临床特征主要为夜间咳嗽、干性咳嗽、特应性体质;UACS的临床特征主要为湿痰咳嗽、晨起咳嗽.结论 儿童慢性咳嗽主要病因为CVA、UACS、AC和PIC.各种病因的慢性咳嗽具有其主要的临床特征,其病因构成及临床特征可为经验性诊治慢性咳嗽提供参考.     

Severe respiratory syncytial virus (RSV) infection in infants with neuromuscular diseases and immune deficiency syndromes

Respiratory syncytial virus (RSV) is an important cause of lower respiratory tract infection (LRTI) in infants and children. There is growing evidence of severe RSV disease in infants with neuromuscular diseases and immune deficiency syndromes. Factors predisposing to a more severe course of RSV disease in neuromuscular diseases include the impaired ability to clear secretions from the airways due to ineffective cough, respiratory muscle weakness, high prevalence of gastro-oesophageal reflux and swallowing dysfunction which leads to aspiration. Similarly, pulmonary disease is a common presenting feature and complication of T-cell immunodeficiency. Infants with severe congenital and acquired immune deficiency syndromes may demonstrate prolonged viral shedding in RSV LRTI and are reported to have increased morbidity and mortality associated with RSV infection. Although not indicated in most guideline statements, palivizumab prophylaxis for these uncommon underlying conditions is under consideration by clinicians. Prospective studies are needed to determine the burden of RSV disease in these children.     

儿童遗传性胰腺炎1例报告

<正>遗传性胰腺炎(hereditary pancreatitis,HP)是一种罕见的常染色体显性基因疾病,通常表现为儿童期急性、反复发作性胰腺炎。由于其临床表现与其他胰腺炎病例相似,因此家族史中HP的存在和缺陷基因的检测在疾病鉴别诊断中都非常重要[1]。已发现与HP相关的致病性突变,包括胰蛋白酶原基因(cationic trypsinogen,PRSS1),分泌性胰蛋白酶抑制剂Kazal 1型(serine protease inhibitor Kazal type 1,SPINK1),囊性纤维化跨膜蛋白转导调节基因(CFTR)和CTRC(胰凝乳蛋白酶C)的突变。HP主要从儿童时期开始;     

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??Abstracts??Familial growth hormone deficiency is caused by genetic mutations and has three inherited modes: autosomal recessive, autosomal dominant and X-linked recessive. Genetic diagnosis is based on detailed history, a clear clinical phenotype and rational application of molecular biology methods.     

先天性结核病20例临床分析

目的探讨先天性结核病的临床特点。方法回顾分析20例先天性结核病患儿的临床资料。结果在20例患儿中19例(95.0%)母亲明确有孕期结核病史,产前诊断5例(25%);患儿发病日龄中位数26天(1～90天)。20例患儿中,咳嗽15例,发热14例,呼吸困难12例,肝脏伴脾脏肿大9例,腹胀7例。抗酸杆菌涂片或结核培养阳性10例,12例行T-SPOT检查9例阳性。20例患儿的胸部影像学检查均异常,表现为广泛结节和斑片影12例,弥漫粟粒结节影6例,右肺散在斑片影2例。16例行腹部超声和/或CT检查,发现肝脏和脾脏内多发结节影7例,腹腔淋巴结肿大6例,腹腔积液6例。结核感染部位主要为肺部20例均有,肝脏7例、脾脏7例、腹膜腔8例、颅内7例。3例患儿因病情危重家属要求放弃抗结核药物治疗,余17例使用抗结核药物,10例病情好转出院,7例病情恶化放弃治疗。结论先天性结核病常呈全身播散性感染,综合母孕期结核病史、反复查找病原学证据、影像学、T-SPOT等辅助检查,可提高早期诊断率,早期、正规抗结核治疗有望降低病死率。