湖南省新生儿先天性甲状腺功能减低症和苯丙酮尿症的筛查分析

目的：了解湖南省新生儿先天性甲状功能减低症（CH）和苯丙酮尿症（PKU）的发病情况,早期诊断和治疗。方法：采用时间分辨荧光免疫法（DELFIA）测定促甲状腺素（TSH）浓度,使用盖塞利细菌抑制法或荧光法测定血苯丙氨酸（Phe)浓度。对TSH≥20μU/L或Phe≥0.26mmol/L(2mg/dl)者,进行确诊检查,确诊后给予治疗并随访。结果：湖南省部分地区46323例新生儿,确诊为CH28例（包括3例TSH延期上升型CH）,PKU患儿1例。经治疗随访患者智能体格发育正常。结论：新生儿筛查能早期发现PKU和CH患儿,及时诊断、治疗和预防智力低下发生,值得大力推广。     

孕妇卧位与新生儿先天性肌斜颈的关系探讨

目的近年新生儿先天性肌性斜颈（CMT）发病率明显增加，且常见于顺产和剖宫产分娩的婴儿，本文旨在探索其发病相关因素。方法除外臀位和难产，随机选择头位顺产和剖宫产住院分娩且无妊娠合并症的CMT患儿38例，作为观察组，同时择其左右邻床顺产或剖宫产出生的无妊娠合并症的正常儿为对照组44例，详细调查两组母婴情况并对比分析。结果两组母婴比较。唯孕妇的卧位因素差异显著（P〈0．001），斜颈组孕妇采取持续左侧卧位占比例大。结论孕妇持续长时间采取左侧卧位可增加CMT的发病率。     

围生期先天性心脏病的发生趋势及产前诊断

目的为了解围生期先天性心脏病（简称先心病）的发生趋势及产前诊断情况,为制定预防干预措施提供依据。方法选择2家市级医院于2003年10月至2006年9月对医院出生的孕28w至产后7天的围生儿包括活产儿、死胎、死产和治疗性引产儿进行先心病及相关因素监测。结果2003年10月至2006年9月共监测围生儿29589例,发现先心病351例,平均发生率为11．86‰,围生期先心病的发生率呈逐年上升趋势（χ^2=29．32,P〈0．01）,性别发生率无统计学意义。孕母年龄t〉30岁组的围生期先心痛发生率明显增加,尤其年龄≥35岁组（χ^2=24．73,P〈0．01）。351例先心病儿中产前诊断20例,占5．97％,主要类型为室间隔缺损伴心脏其它畸形、法洛四联症、完全性房室通道、大血管错位、永存动脉干与左心发育不良等,其中治疗性引产19例。结论开展围生期先心病监测及病因研究,减少先心病的发生,对提高出生人口素质和儿童生存质量有重要意义。重视母亲孕前与孕期干预工作,对有高危因素的孕妇尽早在孕28w前进行产前诊断,提高胎儿心脏超声诊断水平是目前提高先心病早期诊断的关键。     

重庆乡镇0～3岁儿童先天性心脏病筛查与随访

目的筛查重庆乡镇0~3岁儿童先天性心脏病(CHD)的发病情况,随访确诊的CHD患儿,探索适宜于该地区的CHD筛查、诊断、随访体系及筛查指标。方法采取整群抽样法抽取重庆市涪陵区0~3岁乡镇儿童,采用"乡镇-区县-省市"分级的筛查、诊断、评估体系,以"CHD家族史、呼吸困难、青紫、特殊面容、其他先天性畸形、心脏杂音、脉搏血氧饱和度(Sp O295%)"7项指标进行筛查,1项及1项以上筛查指标阳性者行超声心动图检查以明确有无CHD,并评估CHD患儿病情,指导治疗及随访。结果纳入调查10 281例儿童,实际筛查10 005例(应答率97.32%)。175例筛查指标阳性,其中166例行超声心动图检查,确诊CHD 60例(患病率6‰),其中单纯型46例(76.65%),复合型11例(18.33%),复杂型3例(5.00%)。7项单项筛查指标中,心脏杂音诊断CHD的ROC曲线AUC最大;心脏杂音+特殊面容+其他先天畸形联合对诊断CHD的效果最好。对确诊CHD的患儿继续随访、外科或介入治疗,随访6~18个月,10例自然闭合,13例行介入或手术治疗,36例继续随访,1例因其他原因死亡。结论心脏杂音单项指标及其与特殊面容和其他先天畸形联合筛查对于诊断婴幼儿CHD有重要价值。合理运用各项临床筛查指标,采用"乡镇-区县-省市"分级的婴幼儿CHD筛查、诊断和评估体系,有利于重庆地区婴幼儿CHD的早期发现、诊断及治疗。     

液体超负荷与婴儿先天性心脏病术后急性肾损伤的关系

目的探讨液体超负荷与婴儿先天性心脏病术后急性肾损伤(AKI)的关系。方法对88例年龄6个月的行先天性心脏病根治术患儿进行回顾性研究。比较术后是否合并AKI患儿的治疗结局,以及术后第2天累积液体超负荷对治疗结局的影响,并分析术后AKI发生的影响因素。结果与术后无AKI患儿比较,合并AKI者年龄更小、体重更低,血肌酐、血管活性药物评分更高,术中体外循环时间和主动脉阻断时间更长,输血量更多、低心排综合征发生率更高,机械通气时间、ICU停留时间、住院时间更长,体外膜肺氧和使用率以及30 d死亡率更高,术后第2、3天的累积液体超负荷更高(P0.05)。Logistic回归分析提示液体超负荷、低心排综合征是术后发生AKI的主要影响因素。术后第2天累积液体超负荷5%的患儿低心排综合征发生率、机械通气时间、ICU停留时间和住院时间较长,死亡率较高(P0.05)。结论先天性心脏病术后液体超负荷的婴儿易发生AKI,液体超负荷可能与术后不良结局有关。     

Long-term morbidity of congenital diaphragmatic hernia: A plea for standardization

Congenital diaphragmatic hernia (CDH) survivors present long-term morbidities in several systems, including the neurodevelopmental, gastrointestinal, pulmonary, and musculoskeletal ones, and CDH long-term sequelae are increasingly being recognized. Due to high co-morbidity, health related quality of life in a significant proportion of CDH patients might be compromised. As a consequence of consciousness on the long-term sequelae of CDH survivors, and their consequences for life, several follow-up programs were brought to life worldwide. In this review, we will summarize the long-term sequelae of CDH survivors, the impact of new treatments, and analyze the consistency of follow-up programs.     

Congenital diaphragmatic hernia: The role of multi-institutional collaboration and patient registries in supporting best practice

Among congenital malformations, congenital diaphragmatic hernia (CDH) is distinguished by its relatively low occurrence rate, need for resource intensive, integrated multidisciplinary care, and widespread variation in practice and outcome. Although randomized controlled trials (RCTs) are considered the gold standard for generating evidence, they are poorly suited to the study of a condition like CDH due to challenges in illness severity adjustment, unpredictability in clinical course and the impact limitations of studying a single intervention at a time. An alternative to RCTs for comparative effectiveness research for CDH is the patient registry, which aggregates multi-institutional condition-specific patient level data into a large CDH-specific database for the dual purposes of collaborative research and quality improvement across participating sites. This article discusses patient registries from the perspective of structure, data collection and management, and privacy protection that guide the use of registry data to support collaborative, multidisciplinary research. Two CDH-specific registries are described as illustrative examples of the “value proposition” of registries in improving the evidence basis for best practices for CDH.     

ECMO in CDH: Is there a role?

Despite wide use and decades of experience, survival of congenital diaphragmatic hernia (CDH) patients treated with extra-corporeal membrane oxygenation (ECMO), as reported by the extra-corporeal life support organization (ELSO), remains unchanged at 50%. High-survival rates both with and without utilizing ECMO have been reported, fueling questions about the utility of ECMO support in this difficult population. This review looks at data from the Congenital Diaphragmatic Hernia Study Group and individual center reports, to evaluate the role of ECMO in CDH, focusing on defining the patients most likely to benefit, and discussing how those benefits can best be achieved. These data show that ECMO improves survival in those CDH patients who are most severely affected, but potential complications of ECMO delivery outweigh benefit in patients with less severely affected. Improved results can be expected by minimizing ECMO complications, and by improving rates of CDH repair in patients that require ECMO.