儿童青少年双眼跳跃功能的发展特性

目的 了解儿童双眼视觉诱导性眼跳跃（ＶＧＳ）和记忆诱导性眼跳跃（ＭＧＳ）随年龄发展的特性。方法 采用组合式眼动仪附加多视角定位测试法,对５～１９岁健康男性儿童青少年按年龄分为８组,每组８人进行双眼跳跃功能测定。二极管红色闪烁点（ＬＥＤ）定位于中央点、水平方向、垂直方向和斜方向,各方向视角分别有５、１０、１５、２０、３０、４０度６个点,共计４９个闪烁点,指标包括潜伏期、振幅准确率以及最大角速度。结果     

Epidemiology of meningitis and bacteraemia due to Streptococcus pneumoniae in The Netherlands

In The Netherlands, accurate data on the epidemiology of pneumococcal meningitis are available through a clinical microbiology laboratory-based national surveillance of cerebrospinal fluid isolates. The Netherlands Reference Laboratory for Bacterial Meningitis receives isolates of about 80% of all meningitis cases and about 40% of bacteraemic cases. The incidence of pneumococcal meningitis has increased slowly from 1.0/100000 in 1990 to 1.5/100000 since 1996. The highest age-specific incidence of meningitis was observed in children <5y of age (8.2/100000 in 1999). Of all isolates, 35% were from children <5 y of age. The number of isolates from non-meningitis patients with bacteraemia increased considerably since the early 1990s, especially among the elderly. The highest incidence was found in 1996, probably owing to a relatively severe winter. During 1995–1999, pneumococcal meningitis in The Netherlands was caused mainly by serotypes 3, 6B, 7F, 9V, 14, 18C, 19F, and 23F. Of the cases in children <15y, almost half were caused by serotypes 6B, 14, 18C, and 19F. The serotypes present in the 23-valent polysaccharide and 7-valent conjugate vaccines accounted for 87% and 47% of all meningitis cases, respectively. Pneumococcal resistance to penicillin in The Netherlands is still low, at about 1%. Genotypically, resistant strains belong to many clones. Horizontal transfer of capsular genes occurs among these isolates. In The Netherlands, 45% of cases of pneumococcal meningitis have severe predisposing factors. The case-fatality rate was significantly higher among patients with impaired immunity than among those with a break in the integrity of the dura.     

以严重高血压就诊的17α-羟化酶缺乏症

患儿,女（社会性别）,14岁,因发现高血压11 d入院。患儿无月经来潮。查体：血压146/90 mm Hg,肤色略黑,乳腺未发育,可见大阴唇,未见小阴唇、阴蒂、阴道及处女膜。实验室检测发现低肾素、低皮质醇、高促肾上腺皮质激素,低性激素、高促性腺激素,血钾、醛固酮未见异常;影像学提示骨龄落后,无卵巢、子宫,双侧肾上腺皮质增生,双侧腹股沟区隐睾。染色体核型46,XY。全基因组测序提示：CYP17A1外显子区域2个纯合突变,c.985T > C（胸腺嘧啶突变为腺嘌呤）和c.987delC （缺失突变）,父母存在上述2个位点的杂合突变。确诊为先天性肾上腺皮质增生症17α-羟化酶缺乏症。给予氢化可的松治疗2个月后血压恢复正常,ACTH下降,继续氢化可的松治疗,并应患儿及父母要求按女性治疗,加用雌激素替代,手术切除隐睾。儿童高血压的鉴别诊断也应注意儿童性发育情况,筛查ACTH和皮质醇,以免误诊;对低肾素性高血压伴性发育落后者应注意鉴别罕见病17α-羟化酶缺乏症。     

Upper airway obstruction

The airways in infants and children are anatomically different from adults, thus predisposing them to more acute upper airway obstruction. The causes of upper airway obstruction may be infective or non-infective. The presence of dysphonia, dysphagia, abnormal respiratory pattern, cough and abnormal posture suggests upper airway obstruction. The general management consist of supportive care with minimal invasive procedures. The specific treatment depends on the causes and is discussed in text.     

The UPANAYAN’ early intervention programme

The Upanayan programme is a product of Indchem Research and Development Laboratory, a scientific association recognized by Government of India, Ministry of Science and Technology. The objective of the project was to develop a computer assisted programme for the training of persons with mental retardation. The project was executed by an inter disciplinary team of experts. The focus of the training programme is the mother who is the intervening agent. The programme, developed in the first phase of the project, is an expert system for the infant stimulation and early intervention process for children below 2 years of age with the disability. The system comprises of: (i) a development check list of skills for assessment and programming, (ii) a profile to record the observations, (iii) intervention strategies in the form of activities to acquire all the skills in the check list. The programme is designed for the Indian socio-economic conditions and is available in the form of a printed manual, and also as a computer software. The two can be used independently of each other. The programme has been translated into Hindi, Tamil, Malayalam and Marathi. With this programme as the basis, a centre for early intervention, Madhuram Narayanan Centre for Exceptional Children—was set up in Madras about 3 years back. Presently 210 children are receiving training there. The Centre has evolved intervention strategies based on parental involvement, with salutary effect on the parents as well as on the children.     

卵黄囊瘤裸鼠移植瘤模型的建立及其生物学特性的研究

目的 采取手术标本,在裸鼠皮下连续传代建立人卵黄囊瘤裸鼠移植瘤模型.方法 切取睾丸卵黄囊瘤患儿瘤组织植入裸小鼠腹股沟皮下,连续传代.观察卵黄囊瘤移植瘤各代生长潜伏期、生长曲线.电子显微镜观察肿瘤组织超微结构、病理形态情况.并通过免疫组织化学染色检测动物模型标本的甲胎蛋白(AFP)、胎盘碱性磷酸酶(PLAP)、细胞角蛋白(CKPan)表达.同时分析肿瘤细胞的染色体数目.结果 15个月中连续在裸鼠皮下传7代,成瘤率逐渐升高:前三代的成瘤率分别为20%、40%、65%,此后接种成瘤率为100%,肿瘤生长潜伏期为32 d.移植瘤生长曲线与Gompentz函数符合.移植瘤保留了原卵黄囊瘤的组织学特征.免疫组织化学示卵黄囊瘤的标志物AFP、PLAP、CK表达阳性,与对照组比较,差异有统计学意义(P＜0.01).染色体数目分析结果显示染色体数目波动于34～86,可见染色体缺失断裂,不同于正常裸鼠和人染色体数目.结论 该模型基本保留了原肿瘤的生物学特性,是卵黄囊瘤基础及临床研究的良好模型.     

Isolated primary agenesis of left lung presenting with recurrent respiratory infections – An uncommon presentation

The present article reports a rare case of isolated primary left lung agenesis who presented with the history of recurrent respiratory infections. Lung agenesis is an uncommon entity resulting due to non-proliferation of the lung bud. The agenesis may be complete or partial depending upon the time of proliferative arrest. It may be isolated or associated with organ anomalies. In complete agenesis, there is no development of pulmonary vasculature or lung parenchyma, however, there may be rudimentary bronchus (as in the present case). The rudimentary bronchus becomes the site of impacted secretions which result in recurrent infections. The lung aplasia or hypoplasia may be primary or secondary. The secondary hypoplasia is due to some other anomalies like congenital diaphragmatic hernia which hampers the noemal development of the lung. The lung aplasia may be unilateral or bilateral. The bilateral lung aplasia is incompatible with life. The other anomalies which result due to maldevelopment of the lung buds include congenital trachea-esophageal fistula (further classified into five types depending upon the communication between the trachea and the esophagus), congenital lobar emphysema, congenital pulmonary airway malformation (earlier called congenital cystic adenomatoid malformation or CCAM), polyalveolar lobe, pulmonary arteriovenous malformation, intralobar or extralobar sequestration, pulmonary lymphangiectasia, and alveolocapillary dysplasia. The present report focusses only on the lung agenesis, its embryology, clinical manifestations and diagnosis. The various differentials of the lung agenesis include lung collapse, massive pleural effusion, and huge lung mass on radiography. The contrast-enhanced computed tomography plays the pivotal role in actual and accurate diagnosis of lung aplasia and helps in ruling out all differential diagnoses.     

单中心儿童肾活检1 579例临床和病理类型分析

目的 了解肾穿刺患儿病理特点及其与临床表现的关系,以及疾病谱变迁。方法 调取华中科技大学同济医学院附属同济医院儿科1989至2012年行肾活检病例的临床分类和病理学分型资料,依据年龄（<1、～3、～6、～12和～18岁）和性别分组进行构成比的比较和分析,以2001年为时间节点分为2个阶段分析疾病谱的变化趋势。结果 1 579例肾活检患儿进入分析,平均肾穿刺年龄（9.3±3.2）岁,男女比例1.92∶1。①肾活检患儿中原发性肾小球疾病949例（601%）,继发性肾小球疾病493例（31.2%）,遗传性肾脏疾病130例（8.2%）;原发性肾小球疾病中肾病综合征、单纯血尿、急性肾炎分别占44.8%、26.2%和15.3%;继发性肾小球肾炎中紫癜性肾小球肾炎、HBV相关性肾炎（HBVGN）和狼疮性肾炎（LN）分别占55.4%、22.9%和18.4%;遗传性肾脏疾病中薄基底膜病和Alport综合征分别占50.0%和462%。②949例原发性肾小球疾病的病理类型以轻微病变/微小病变(24.8%)、IgA肾病(21.0%)和系膜增生性肾小球肾炎(191%)为主;女性新月体性肾小球肾炎构成比显著高于男性。③肾病综合征构成比随年龄增长呈逐渐减少趋势,单纯血尿构成比在～12岁组最高（31.0%）,急性肾炎和慢性肾炎构成比随年龄增长呈逐渐增加趋势;HBVGN主要分布于～3岁组(71.4%),构成比随年龄增长而呈下降趋势。LN主要见于～18岁组,溶血尿毒综合征主要分布于～3岁和～6岁组。④原发性肾小球疾病主要病理类型：肾病综合征为微小病变/轻微病变(31.1%),急性肾炎为毛细血管内增生性肾小球肾炎(28.3%),慢性肾炎为硬化性肾炎(59.4%)。⑤2002至2012年肾病综合征、紫癜性肾炎、IgA肾病构成比较1989至2001年显著增高,急性肾炎、 HBVGN构成比显著下降。结论 肾活检患儿肾小球疾病临床和病理类型与年龄、性别有一定相关性,23年间某些肾小球疾病的构成比发生变化。     

不同治疗方案对儿童幽门螺杆菌感染的临床疗效评价

目的评价4种幽门螺杆菌(H.pylori)感染根除方案:序贯疗法、三联疗法、序贯合用乳酸菌及三联合用乳酸菌疗法的疗效。方法 416例H.pylori感染患者随机分为4组:序贯疗法(102例)、三联疗法(100例)、序贯合用乳酸菌(109例)及三联合用乳酸菌(105例)组。分析4组患儿的临床疗效、H.pylori根除率、成本/效果比值及不良反应发生率等。结果 4组治疗方案的疗效以序贯合用乳酸菌或三联合用乳酸菌组的疗效较好(P0.05)。4种治疗方案显效率及H.pylori根除率均以序贯合用乳酸菌组最高,其次为三联合用乳酸菌组,三联疗法组最低(P0.05)。4组患儿的成本/效果比值以序贯疗法组最低、序贯合用乳酸菌组次低,三联合用乳酸菌组最高(P0.01)。不良反应发生率最低的是序贯合用乳酸菌组,次低为三联合用乳酸菌组,最高的为三联疗法组。结论序贯合用乳酸菌疗法为最佳儿童幽门螺杆菌感染根除治疗方案。     

The Movement Assessment Battery for Children—Second Edition (MABC-2): A Review and Critique

The Movement Assessment Battery for Children—Second Edition (MABC-2) is a recent revision of the well-known Movement Assessment Battery for Children (MABC). The MABC-2 is designed to identify and describe impairments in motor performance of children and adolescents 3 through 16 years of age. The Performance Test and the Checklist have been standardized using a larger, more representative normative sample. The evolution of the MABC-2 and research using the MABC is presented to provide a context for the MABC-2. The content of the MABC-2 is described including the scoring format, standardization sample, reliability, and validity. The MABC-2 includes four new items, the revision of some items, the creation of a 3- through 6-year and 11- through 16-year age bands, the combination of the 7- through 8- and 9- through 10-year age bands, and a system to assist with score interpretation. The Checklist has been reorganized and the total number of items reduced to 30. The primary weakness of the MABC-2 is the lack of evidence on reliability and validity. The quality, comprehensiveness, and rigor of reliability and validity studies reported in the test manual are variable. Considering the strengths and weakness of the MABC-2, it appears to be a clinically useful instrument, however, until further reliability and validity studies are completed, therapists should be guarded when basing their clinical decisions solely on MABC-2 test results.     

肾母细胞瘤血小板、凝血系统功能状态 及其相关活化指标变化的研究

目的分析肾母细胞瘤时血小板数量、体积、活化、功能状态和凝血功能指标和凝血因子活化指标的改变。方法肾母细胞瘤患儿组和对照组均为对例,用125I标记单克隆抗体SZ51测定GMP-140,ELISA测定TXB2,用赦免法测定5－HT,用CoulterJT－IR细胞分析仪测定血小板数量、体积,采用TYXN血液凝固仪测定血小板聚集率,采用CONTRONⅣ型凝血仪测定凝血功能,采用ELISA法测定凝血酶原片段1＋2、纤维蛋白肽A。结果肾母细胞瘤时,反映凝血因子水平的凝血功能指标发生明显变化,其中活化部分凝血活酶时间（APTT）、凝血酶时间（TT）显著缩短（P＜0．01）,反映凝血因子活化的指标显著高于对照组（P＜0．01）。结论肾母细胞瘤患儿的内源性凝血途径的凝血因子及凝血酶水平显著增高,凝血因子高度活化,提示凝血机制的改变与肿瘤刺激和促进肿瘤浸润存在密切的关系。     

91所医院1990～2002年小儿慢性肾衰竭1268例调查报告

目的　调查我国 1990年 1月～ 2 0 0 2年 12月间 0～ 14岁住院小儿中慢性肾衰竭 (CRF)病例的年龄、病因、临床病理特点、治疗情况及转归。方法　由中华医学会儿科学分会肾脏病学组统一组织领导 ,全国 4个直辖市、13个省及 2个自治区共 91所医院参加调查。CRF诊断以内生肌酐清除率 (CCr) <5 0ml/(min·1 73m2 )为标准。采用填写调查表形式 ,对诊断为慢性肾衰竭的住院患儿进行回顾性病例登记 ,进行相关资料统一汇总、分析。结果　 1990年 1月～ 2 0 0 2年 12月间 ,91所医院0～ 14岁住院小儿中共诊断CRF 16 5 8例 ,每年在住院的泌尿系统疾病患儿中所占比例为 0 72 %～1 75 % ,平均 1 31% ,呈逐渐上升趋势。 1997～ 2 0 0 2年与 1990～ 1996年比较 ,CRF平均年诊断例数和占泌尿系统疾病的百分数均显著增加 (P <0 0 0 1)。 12 6 8例完整资料分析显示 :男女比例 1 4 9∶1,平均发病年龄 8 2岁 ,平均确诊前病程 2 5年。主要原发病为慢性肾炎和肾病综合征 ,占 5 2 7% ,先天 /遗传性疾病约 1/4,以肾发育异常和肾囊性病为主。确诊时主要临床表现为贫血、胃肠反应、水肿、高血压和体格发育落后 ;平均血清肌酐 (SCr) 5 94 7μmol/L ,BUN 39 1mmol/L ,肾功能分级≥Ⅳ级者占 80 % ;1/3有肾萎缩 ,部分见囊性病变。多     

儿童癫痫共患注意缺陷多动障碍临床特征及相关因素分析

目的 探讨癫痫儿童注意缺陷多动障碍（ADHD）的临床特点,分析癫痫相关因素与ADHD之间的关系。方法　选取2015-09-01-2016-02-01就诊于中国医科大学附属盛京医院小儿神经科癫痫专业门诊的180例患儿为研究组,选择辽宁地区2所公立小学和1所公立初中的125例既往健康儿童作为对照组,详细收集基本资料并完成相关问卷调查和心理量表评估。结果　癫痫儿童ADHD共患率为28.89%,而对照组ADHD的发生率为7.2%,差异有统计学意义（P＜0.05）。癫痫相关因素中：性别、癫痫发作次数、口服单一抗癫痫药对共患ADHD无影响,而与癫痫首发年龄、发作是否控制、脑电图是否恢复正常、联合口服多种抗癫痫药物存在明显关联,差异有统计学意义（P＜0.05）。癫痫儿童的Conners行为评分普遍较高,品行问题、学习问题、多动和冲动等问题较单纯癫痫患儿显著,差异有统计学意义（P＜0.05）。结论　癫痫患儿中,ADHD发生率较高,癫痫首发年龄、是否控制、脑电图是否恢复正常、联合口服多种抗癫痫药物与癫痫儿童共患ADHD密切相关。癫痫儿童共患ADHD的品行问题、学习问题、多动-冲动方面表现较显著。     

Febrile seizures

Febrile seizures are the most common convulsive disorder in children. The definition, epidemiology, genetics, clinical features, evaluation and management are reviewed. The importance of evaluating the very young child with febrile seizure for an underlying CNS infection is reviewed. The current standard of treatment is discussed. The importance of recognizing and alleviating parental anxiety is discussed.     

过敏性紫癜合并抗磷脂综合征1例报告并文献复习

目的探讨过敏性紫癜与抗磷脂综合征的关系。方法通过对1例以间断皮疹、血尿、蛋白尿及上肢肿痛为主诉的患儿进行肾组织病理、抗磷脂抗体检查,随访观察治疗反应,并结合文献复习进行综合分析。结果患儿临床表现为过敏性紫癜混合型,肾脏病理为紫癜性肾炎(Ⅳb型);同时有右上肢静脉血栓形成,狼疮抗凝血因子、抗心磷脂抗体IgM及抗β2糖蛋白-I抗体IgM阳性,诊断为过敏性紫癜合并抗磷脂综合征。给予泼尼松口服、环磷酰胺冲击以及抗凝治疗,患儿临床症状好转,尿蛋白和抗磷脂抗体转阴。结论过敏性紫癜可以合并抗磷脂综合征,临床上应引起高度重视。     

Angiosarcoma of the Liver in Childhood: A Clinocopathologic and Follow-up Study of 10 Cases

The clinical, morphologic, and follow-up findings in 10 cases of childhood hepatic angiosarcoma are reported. Six patients were female and four were male. The age range was 18 months to 7 years, with a mean of 3.7 years. The usual presenting feature was an abdominal mass, with or without associated symptoms. The histologic pattern of childhood hepatic angiosarcoma typically consists of large hypercellular whorls of spindled sarcoma cells intermingled with bile ducts, vessels, and collagen. Factor VIII staining of tumor cells is focal, cytoplasmic, and weak in character. Intracellular eosinophilic, PAS-positiue globules are present in most cases and may be abundant. The prognosis is poor; follow-up available in seven cases showed only one to be alive 32 months after diagnosis. The remaining six patients had died 0-27 months (mean 10 months) after diagnosis.     

腺病毒肺炎后遗症的再认识

腺病毒肺炎是小儿时期严重的肺炎之一.病死率高,存活者有14%～60%可遗留不同程度的肺后遗症.而且急性期肺炎越严重,其后遗症的发生率越高.腺病毒肺炎常遗留的后遗症为:闭塞性细支气管炎、单侧透明肺、支气管扩张、间质纤维化等.其中,闭塞性细支气管炎为其基础病变,单侧透明肺为其影响肺发育的结果,部分支气管扩张也可为闭塞性支气管炎阻塞继发感染的结果.     

La prise en charge de l’autisme : le traitement médiatique

The controversies about French autism care services receive heavy media coverage. The parents’ associations of autistic children, who obtained that autism became “The Great National Cause for 2012”, heap criticism on psychoanalysis and promote behavioural methods. The notion of French scandal is taken up by most of the media. Only few of them adopt a more moderate attitude and take into account the fieldwork of professionals aiming to help families and children. The shortage of public services, the first aim of the mobilization for the parents’ associations in the 1960–1990s, is relegated to the background. The co-construction of public problems by the media and the associations is analyzed to better understand how public opinion is built.     

先天性巨结肠改良Duhamel术式治疗后远期生活质量评估及其对策

目的评估改良Duhmel术式治疗术后远期生活质量,分析造成排便功能障碍的原因,并提出改善措施.方法对42例术后5年以上患儿进行了远期生活质量评估、排便功能临床评价及直肠肛管测压、X线钡灌肠检查.结果大部分患儿身体、心理发育及社会适应性正常.临床排便功能评分优良率达90.5%.静息压差、肛管高压区长度及钡灌肠肛管长度明显下降(P＜0.05),自主收缩压优、良组明显高于对照组(P＜0.05).结论术后肛门内括约肌功能不全是污粪的主要原因,术后外括约肌功能代偿性增强.提出术中应减少对内括约肌的破坏,术后进行肛门功能锻炼.     

P53基因在幼年性息肉病不典型增生中的表达及其意义

目的 探讨P^53基因异常与幼年性息肉病(JPS)不典型增生改变的关系。方法 采用免疫组化及原位杂交方法检测JPS不典型增生标本中P^53蛋白(DO-7)和P^53mRNA的表达。结果 P^53蛋白在正常黏膜，单发结、直肠幼年性息肉，JPS无不典型增生。JPS伴不典型增生和大肠癌各组中阳性表达率分别为0％、9．3％、27．3％、66．7％和70％；P^53mRNA在上述各组中阳性表达率分别为0％、12．5％、54．5％、75％和80％。P^53蛋白阳性袁达率、P^53阳性面积及P^53mRNA阳性表达率在JPS不典型增生组均显著高于JPS无不典型增生组。P^53蛋白与P^53mRNA表达呈显著一致性。结论 P^53基因变异可能在JPS伴不典型增生的形成过程中起重要作用。