Accidents in childhood: relation to psychosocial conditions and mental development

In a longitudinal cohort study we investigated if children experiencing psychosocial stress and exhibiting certain psychopathological symptoms run a higher risk of having accidents than other children. In 366 children the number of hospital-treated casualties during the first 10 years of their lives was related to the physical and mental characteristics of the children and to the social conditions in their families. Boys had a higher number of accidents when one or both of the parents were known to have alcohol problems. Girls exhibiting symptoms of depression, anxiety and problems in social relationships at 4–5 years of age had more accidents than girls without such symptoms. However, the differences in accident rates were small, perhaps due to the physical environment in the housing areas and the general attitude, both aiming towards reducing childhood accidents.     

A Case of Hypoplastic Left Heart Syndrome and Bicuspid Aortic Valve in Monochorionic Twins

The etiology of hypoplastic left heart syndrome (HLHS) remains unclear. Since a genetic cause for HLHS has not been obvious, it is generally considered to be inherited in a multifactorial manner. Studies of twins are valuable in elucidating the genetic contribution to a birth defect such as HLHS. We report a case of monochorionic twins in whom one has HLHS and the other has a bicuspid aortic valve. Predisposing genetic and environmental influences on individuals with identical genotypes, such as twins, may result in discordance of left-sided flow lesions.     

儿童Gitelman综合征6例

目的探讨儿童Gitelman综合征的临床特点及其与Bartter综合征的鉴别。方法总结本院住院的6例儿童Gitelman综合征的临床表现、实验室检查、治疗方法及效果,回顾分析Gitelman综合征及Bartter综合征相关文献。分析二者发病机制、临床表现治疗等不同点。结果6例均起病早,婴幼儿期起病,以生长迟缓、无力及抽搐为主要表现,血压正常。实验室检查主要表现低血钾、低血镁,代谢性碱中毒,血浆肾素、血管紧张素明显升高,醛固酮升高不明显或正常。治疗需补钾、补镁症状才能改善。结论Gitelman综合征与Bartter综合征临床表现及发病机制均有不同,相应治疗也不同。     

Rapidly Developing Overweight in School Children as an Indicator of Psychosocial Stress

ABSTRACT. From a cohort of 971 Swedish children followed up from birth through 15 years of age, all the children who had shown an increment in relative weight of more than 15 % (measured weight in % of standard weight for height) between the ages of 7 and 10 years (group A, n = 25), 10 and 13 years (group B, n = 23), and 7 and 13 years (group C, n = 22) were selected for the present study. For each case a control matched for sex and relative weight at 7 (groups A and C ) or 10 years (group B ) was selected. The degree of psychosocial stress was estimated by two raters on the basis of all the accumulated data in the school health records and of the personal knowledge of the school nurses. There was good agreement between the raters. A significant difference in the degree of psychosocial stress was found between cases and controls. An analysis of specific items revealed differences with respect not only to soft data, but also to objective facts (continuation of school after completion of the nine years of compulsory school). It is concluded that a rapid weight gain during school years may be an indicator of psychosocial problems.     

EVALUATING THE SIGNIFICANCE OF MINIMAL BRAIN DYSFUNCTION—RESULTS OF AN EPIDEMIOLOGICAL STUDY

An epidemiological field investigation of 399 8-yr-old children was unable to support basic assumptions of the clinical MBD concept (existence of a homogeneous syndrome, specific psychopathology, evidence of increased perinatal risks). Using a multi-level case definition procedure and factor-analytic data aggregation, nearly complete independence was found among the diagnostical levels of neurophysiology, neuropsychology and specific skills. Main results were replicated after the application of several alternative models of case definition and were further confirmed by data from a clinical sample. Present findings emphasize the necessity to reconsider the concept of MBD and its practical consequences.     

缺氧缺血性脑损伤

由于高代谢的需要,脑高度的依赖充分的氧供给,全脑性缺氧/缺血会导致快速的能量丧失,引起一连串的包括兴奋毒性损伤、炎症和凋亡所共同造成的脑损伤.围生期窒息复杂的先天性心脏病开放性手术及意外的捂热综合征均是酿成缺氧/缺血脑损伤的危险因素.缺氧/缺血愈久,损伤愈重,预后也愈差.因而需及早给予积极和恰当的治疗.     

神经母细胞瘤相关的眼阵挛-肌阵挛综合征研究进展

眼阵挛-肌阵挛综合征(OMS)是一种罕见的神经系统疾病,临床以不自主、快速、无规律眼球运动,肌阵挛,共济失调为特征,常有发育和行为异常后遗症。OMS与恶性肿瘤相关,在儿童,约50%的OMS并神经母细胞瘤(NB),NB是儿童常见的一种颅外恶性实体肿瘤。伴有OMS的NB患儿大多数能长期存活。其确切发病机制尚不十分清楚,多数学者认为是一种自身免疫性疾病。关于OMS的治疗,目前尚无统一的治疗方法,多应用免疫抑制剂和免疫调节剂。由于切除肿瘤、免疫抑制治疗未能有效阻止神经系统发育与行为异常后遗症的发生,如何通过有效的治疗改变预后,其观点仍有争议。     

马方综合征24例

目的探讨儿童马方综合征的临床表现、实验室检查的特点。方法对24例马方综合征患儿的症状、体征及检查进行综合评估,分析各自阳性率。结果24例患儿中,胸廓、脊柱畸形19例(79%),其次为瘦长体形16例(67%),蜘蛛指(趾)15例(63%)。超声心动图主动脉窦增宽16例(67%),左心室增大及二尖瓣返流3例(13%)。结论早期诊断马方综合征,预防心血管并发症,是降低本病死亡率的关键。     

Autistic features in a total population of 7-9-year-old children assessed by the ASSQ (Autism Spectrum Screening Questionnaire)

BACKGROUND: The prevalence of autism is reported to be on the rise worldwide. Change of diagnostic criteria and a broadening of the concept of autism have been mentioned as contributing factors. Further studies of general populations are needed. The present study assessed the distribution of autistic features in a total population of children 7-9 years of age, and explored the impact of age, gender, informant, and participation bias on symptom report. METHODS: Teacher and parent forms of the Autism Spectrum Screening Questionnaire (ASSQ) were used in the "Bergen Child Study", a total population study of 9430 children aged 7-9 years. Completed teacher forms were returned for 97% and parent forms for 71% of the children. High-scorers were defined according to the ASSQ validation study by Ehlers, Gillberg, and Wing (1999). RESULTS: The distribution of ASSQ scores was found to be almost continuous. Of the children with both a teacher and a parent form, 2.1% were defined as high-scorers. Children without parent informed consent (i.e., anonymous children) obtained significantly higher teacher scores than those who had questionnaires completed by both parent and teacher. Adjusting prevalence for the anonymous children, the prevalence of high-scorers was 2.7% of the total population. Age did not affect symptom scores. Boys scored higher and parents reported more symptoms, particularly in girls. Agreement between informants was low to moderate. CONCLUSIONS: Autism symptoms are not uncommon in the general population of children. Our findings are consistent with the concept of autism as a spectrum. Non-responders had a higher load of autism symptoms than identified children, indicating that reports on the prevalence of autism in a responder group underestimate true prevalence. Large differences across informants suggested the need to gather information both from families and from schools when screening for autism spectrum disorders.     

低危骨髓增生异常综合征的诊断和治疗

目的探讨小儿低危骨髓增生异常综合征（MDS）的临床诊疗特点,提高小儿低危MDS诊疗水平。方法分析17例低危MDS的辅助检查特点,监测治疗药物环孢素血药质量浓度,评价治疗效果。结果血常规检查示三系减少11例（64.7%）,二系减少5例（29.4%）,一系减少1例（5.9%）;82.4%（14/17）网织红细胞计数增高,3例正常。17例中骨髓增生活跃14例（82.4%）,增生低下3例（17.6%）。其中一系病态造血8例（47.1%）,二系病态造血7例（41.2%）,三系病态造血1例（5.9%）,无病态造血1例（5.9%）。骨髓细胞遗传学检查示染色体正常10例（58.8%）,异常7例（41.2%）。15例CD59阴性细胞比例在正常范围,占88.2%;2例略高。9例于治疗3周测环孢素血药质量浓度95.3-316.5μg/L。10例于治疗3个月时进行疗效评价。其中血液学改善8例,血液学无改善2例,总改善率80%。结论低危MDS患儿多为学龄期儿童,全血细胞减少最多见。泼尼松、环孢素和司坦唑醇的联合治疗对低危型MDS效果较好。环孢素个体吸收差异较大,临床应用时应定期监测血药质量浓度,并随时调整剂量。     

先天性肾病综合征的治疗进展

先天性肾病综合征(CNS)通常指出生3个月内发病,临床表现符合肾病综合征(NS)(大量蛋白尿、低清蛋白血症、严重水肿和高胆固醇血症).根据病因可分为原发性(遗传性)和继发性(非遗传性),原发性因肾小球滤过屏障组成成分或足细胞发育所需调节因子相关基因突变所致;继发性因多种病原体宫内感染或母亲疾病等导致.原发性CNS的临床多表现为激素耐药性NS,激素或免疫抑制剂治疗无效,肾移植是唯一有效的治疗方式.     

阿立哌唑在Tourette综合征治疗中的应用前景

Tourette综合征是抽动障碍中病情较重的一种类型,不仅表现为多样抽动,而且可共患多种心理行为障碍.目前用于Tourette综合征治疗的药物有限,阿立哌唑为有效治疗此病提供了新的前景.     

儿童体位性心动过速综合征的发病机制

体位性心动过速综合征是一种与体位有明确关系的窦性心动过速,特征性临床表现为当患者体位由平卧位转为直立时,于10 min内心率增加≥30次.min-1,或心率最大值≥120次.min-1。体位性心动过速的发病机制目前尚未明了,可能主要与中心血容量改变、自主神经及肌肉泵功能障碍、血管内皮功能异常以及基因变异等有关。     

偏侧惊厥-偏瘫-癫(间)综合征的临床特点及诊断

目的探讨偏侧惊厥-偏瘫-癫癎(HHE)综合征的临床特点及诊断。方法对5例HHE综合征患儿的临床资料进行回顾性分析,总结临床特征及其发病的危险因素,进行必要的辅助检查,包括头颅CT和(或)MRI、脑电图及诊断性智力测定或精神运动发育评价。结果4例4岁内起病,3例伴热性惊厥,最长惊厥时间均在2 h以上,并惊厥侧肢体偏瘫。5例均在偏瘫后2年内出现癫癎反复发作。4例为局限性运动发作,1例为精神运动性发作。5例均存在智力障碍或精神发育迟滞。头颅MRI检查4例发现左侧海马硬化,1例CT示右半球萎缩。脑电图均异常,4例见异常放电,1例示明显不对称。5例均予卡马西平为主的药物治疗,癫癎发作得到控制或部分控制。结论HHE综合征是持续偏侧惊厥导致的偏瘫-癫癎综合征,海马硬化可能是反复癫癎所致海马的继发性损伤,而非癫癎的起源灶。应提高对该病的认识,早期正确处理惊厥持续状态将减少HHE综合征发生。     

环孢素治疗激素耐药型肾病综合征的研究进展

儿童激素耐药型肾病综合征(SRNS)的治疗相对棘手,目前治疗上常用的免疫抑制剂有环孢素(CsA)、环磷酰胺、他克莫司等。CsA的药物代谢动力学不稳定,需定期监测其血药水平。CsA对SRNS儿童的诱导缓解率优于安慰剂及环磷酰胺,与他克莫司相当。SRNS儿童在CsA停药后易出现复发,其复发率为45%～64%。为增强CsA的疗效、减少其肾毒性,推荐应用小剂量、长疗程CsA治疗儿童SRNS的方案。     

利妥昔单抗治疗儿童原发性肾病综合征研究进展

原发性肾病综合征(PNS)是儿童时期常见的肾小球疾病,约25%的频复发型肾病综合征(FRNS)或激素依赖型肾病综合征(SDNS)患儿在成年期仍需用激素和(或)免疫抑制剂(ISA)维持治疗;约35%的激素耐药型肾病综合征(SRNS)患儿加用免疫抑制剂仍不缓解.利妥昔单抗是一种人鼠嵌合型抗CD20单克隆抗体,作为PNS的三线药物用于治疗对ISA如环磷酰胺、环孢素、他克莫司、霉酚酸酯等反应不佳、且不良反应严重的FRNS/SDNS和SRNS患儿,已取得较好的近期疗效,其远期疗效及安全性尚需多中心、前瞻性、大样本的随机对照试验证实.     

脓毒症致毛细血管渗漏综合征35例

目的观察脓毒症患儿并毛细血管渗漏综合征(CLS)的临床特点。方法回顾性分析2001-2010年在本院住院治疗的35例脓毒症并CLS患儿的临床表现、辅助检查特点及治疗、预后情况,对常见致病菌进行药物敏感试验以观察其对抗生素的敏感性,指导临床用药。结果 CLS的发病率有逐年上升趋势。35例患儿均有全身急性进行性水肿及血压下降,呼吸困难27例,意识障碍15例,少尿8例,肉眼血尿5例,肾功能不全12例,均存在低清蛋白血症,尿常规均可见蛋白尿及镜下血尿,胸腔积液28例,腹腔积液26例,心包积液10例。引起儿童脓毒症并CLS最常见的致病菌为革兰阴性杆菌(24例,占85.7%),其对头孢哌酮/舒巴坦钠、亚胺培南、呋喃妥因耐药率低(<15%)。CLS治疗中积极控制感染和补充胶体液尤为关键。结论 CLS具有特殊的病理生理特点和临床表现,只有进行正确的诊断、细致的监测及恰当的治疗才能最大程度地提高治疗效果和改善预后。     

指甲髌骨综合征研究进展

指甲髌骨综合征是一种以指甲和髌骨发育异常或缺如为特征的综合征,由LMX1B基因突变导致的一种常染色体显性遗传性疾病,临床主要表现为指甲发育不全、髌骨缺失或发育不良、桡骨头和(或)肱骨小头发育不全(伴或不伴脱位)和髂骨角四联症,部分伴有眼部异常及肾脏受累.目前尚无特异性治疗.     

临时心脏起搏器治疗阿-斯综合征9例

目的探讨临时心脏起搏器治疗阿-斯综合征(ASS)的价值。方法ASS患儿8例在X线透视下1例床边盲插起搏导管,安装临时心脏起搏器。结果7例于ASS发作1~2d安装,2例于ASS发作10d和20d安装。2例死亡,2例最终安装永久心脏起搏器;5例治愈。起搏过程中2例出现起搏电极移位,1例出现心脏杂音,1例出现局部皮肤感染。结论心脏临时起搏器抢救小儿ASS发作效果良好,且安装越早,预后越好。     

环磷酰胺冲击治疗儿童激素耐药型肾病综合征的疗效

目的 探讨激素耐药型肾病综合征(SRNS)患儿大剂量环磷酰胺(CTX)冲击治疗的疗效及影响疗效的相关因素.方法 总结本院2004年12月～2009年12月收治的资料完整并进行CTX静脉冲击治疗的38例SRNS患儿的病例资料及随访情况,并就其缓解情况及与临床分型、病理类型、临床指标之间的关系及药物不良反应进行回顾性分析.结果 1.本组完全缓解18例(47%),部分缓解11例(29%),总有效率76%;部分缓解患儿均发生于疗程6个月内,延长疗程无累积缓解率增加;未缓解患儿1例在起病5 a内进展至终末期肾病.2.SRNS患儿单纯型肾病组缓解率高于肾炎型肾病组.3.SRNS病理改变以非微小病变肾病为主,即以系膜增生性肾小球肾炎(MsPGN)、局灶节段性肾小球硬化(FSGS)为主;其中MsPGN缓解率较高,而FSGS缓解率相对较低.4.不良反应发生率为53%,最常见不良反应为一过性胃肠道反应,占36%,其次为轻度脱发(10%)、白细胞降低(7%),无严重感染、出血性膀胱炎发生.结论 CTX冲击联合激素治疗SRNS疗效肯定;临床类型、病理类型等因素可能与疗效及预后有关,单纯型肾病、MsPGN有效率较高,FSGS患儿CTX冲击疗效较差,发展为终未期肾病的风险较高.