小儿神经系统遗传病的诊断

一、概述遗传性疾病(genetic disease)是由于遗传物质异常或由遗传因素决定的疾病,根据受累的遗传物质不同,遗传病分为:单基因病、多基因病、染色体病、线粒体病及体细胞遗传病等。在遗传病中80%累及神经系统,且绝大多数在小儿期起病,在国内报道较多的疾病有假肥大型肌营养不良     

第四届全国胎儿、婴幼儿发育新进展与早期干预学习班通知

随着医学模式的转变及儿保意识的增强，儿童保健学作为一门新生边缘学科，正日益受到社会的重视。无论从学术或医疗市场发展的角度来展望，保健是儿科领域不可忽视的重要部分。该学习班有助于适应儿保发展的新趋势——由既往的预防接种、合理营养的“保”健型，进展到强体健身益智的全面型。我院儿科系省重点学科、博士点，并利用大型综合医院多学科之优势，集胎儿、婴幼儿保健，高危儿监测，心理卫生，脑潜能开发及早期干预于一体，具有系统性；并注重理论联系实际、可操作性与实用性，安排了婴儿52项运动神经检查、婴儿抚触与体操、脑瘫（早期）干预技术、婴幼儿智测等操作示范、见习、实习及综合医院儿保康复运作模式探讨等。     

儿童咳嗽变异性哮喘42例临床分析

目的探讨儿童咳嗽变异性哮喘（CVA）的临床特点及治疗方法。方法分析42例CVA患儿临床表现和误诊原因，应用舒喘灵和酮替芬进行治疗观察其疗效。结果临床治疗咳嗽变异性哮喘有明显效果。结论CVA患儿的临床表现不典型，提高对该病的认识、熟练掌握诊断标准是防止漏诊、误诊的关键，确诊后通过试验性治疗、支气管扩张剂（β2受体激动剂）舒喘及酮替芬治疗效果良好。     

儿童肥胖症与血压的关系

目的探讨肥胖儿童的血压情况以及儿童肥胖症与血压的关系。方法对495名7—13岁学生的体检资料统计分析。结果肥胖儿童血压明显高于正常儿童（P〈0．01），男女肥胖儿童血压比较无显著性差异（P〉0．05）。体重指数、皮脂厚度、肥胖度与血压均有显著相关性（P〈0．001），。在0．3～0．5范围，为低、中度正相关，收缩压相关性高于舒张压，女性高于男性。结论肥胖儿童血压虽在正常范围，但明显高于正常儿童，且肥胖越严重儿童血压值越高，提示预防成年人高血压应从预防儿童肥胖抓起。     

儿童支原体肺炎的护理

肺炎支原体(mycoplasmal pneumonia,MP)是我国学龄儿童及青少年常见的一种肺炎,近年来感染猛增,西方国家也早已将肺炎支原体列为5岁以上儿童肺炎的主要病原体。2003年12月~2005年12月我科共收治80例支原体肺炎患儿,现将护理体会总结报道如下。1临床资料1.1一般资料2002年12月~2     

儿童智力低下的回顾性分析

目的通过回顾近5年间智力低下（MR）儿童186例，并对其造成的原因进行分析，探讨怎样达到早期干预目的。方法对186例儿童智力低下的病因进行调查，并予脑CT、MRI检查，部分予丹佛智力筛查法（DDST）及绘人测查法测智商。结果脑CT显示脑水肿、脑软化灶、硬脑膜下积液；MRI显示胼胝体、脑白质发育不良。测智商（IQ）：轻度智力低下，IQ〈70分；重度智力低下，IQ〈55分。结论对智力低下儿童应给予早期干预或治疗，针对发病原因，有的放矢地进行早期干预。有望降低智力低下患儿的发病率，并可提高智力低下惠儿的智商。     

儿童性别识别的心理障碍

性别识别障碍是指儿童对自身性别的行为认识与自已真实解剖特征相反，如男性行为特征象女性，或持续否认自已身体有男性特征。     

Pediatric intracranial aneurysms——clinical characteristics and therapeutic strategies

Objective To assess the radiological characteristics and therapeutic strategies of intracranial aneurysms in children. Methods From our dedicated neurovascular databank of patients, we reviewed 23 consecutive children who had 24 intracranial aneurysms. There were 14 boys and 9 girls with a mean age of 9.09 years ( range 1 - 14 years ). Results Intracranial aneurysms in children ≤ 14 years constituted 1.3% of all intracranial aneurysms. Internal Carotid artery (ICA) and middle cerebral artery (MCA) were the most frequent sites for aneurysms. About 58.3% of the aneurysms were complex, including dissecting, pseudoaneurysm, giant and fusiform aneurysm. 1/3 of all aneurysms were located in posterior circulation. Only 1 case had multiple aneurysms in this case series. Almost half of all cases presented with subarachnoid hemorrhage and others presented with mass effect. 14 cases underwent endovascular treatment. 4 patients received microsurgical therapy. 5 cases did not receive microsurgical or endovascular therapy, 2 of them whose aneurysms spontaneously thrombosed during follow up. One boy with left vertebral artery giant aneurysm died after endovascular therapy owing to gradual thrombosis in basilar artery. Another child had poor outcome because of rerupture of aneurysm before operation. Whereas the majority had a favorable outcome. Conclusions Intracranial aneurysms in children had many clinical and radiological characteristics different from those in adults : ( 1 ) remarkable male predominance; ( 2 ) ICA and MCA were the most common sites for aneurysms; (3) high incidence of large, traumatic, infectious, dissecting and fusiform aneurysms. (4)For pediatric intracranial aneurysms, both microsurgical approaches and endovascular treatment were effective. Endovaacular therapy was the best choice for complex aneurysms.     

闭合复位经皮克氏针交叉内固定治疗儿童肱骨髁上骨折疗效观察

目的 探讨采用闭合复位经皮克氏针交叉内固定治疗儿童肱骨髁上骨折的临床疗效。方法 自1998年2月～2006年1月采用闭合复位经皮克氏针交叉内固定术，治疗儿童肱骨髁上骨折165例，所有骨折均为闭合性骨折，无神经血管损伤。患者年龄5～12岁，平均7．8岁。从肘关节的功能和外观两方面进行疗效评价。结果 术后随访时间7～30个月，平均16个月。所有骨折均为术后3—5周达到临床愈合，并拔除克氏针，治疗过程中未出现骨折再移位。术后无一例肘内翻等并发症。按Flynm评分：优63例，良69例，一般33例，差0例。肘关节伸屈活动丢失是影响治疗结果的主要原因，但这种活动受限会随着时间的延长而有所改善。结论 采用闭合复位经皮克氏针交叉内固定治疗儿童肱骨髁上骨折手术创伤小，固定可靠，可以获得良好的肘关节功能和外形，减少并发症。