先天性心脏病与柯萨奇病毒B3,B4感染的关系

采用配对病例对照研究，探讨先心病与柯萨奇病毒B3、B4感染的关系，结果显示：病例组与对照组患儿CVB3、CVB4．IgG抗体阳性率分别为59．3％、54．3％和53．6％、45．7％，差异天显著性（P值均＞0．05）；经单因素和多因素回归分析均未发现CVB3、CVB4感染与先心病有病因学联系（P＞0．05）     

Linkage studies and mutation analysis of the PDEB gene in 23 families with Leber congenital amaurosis.

The phenotype in the rd mouse is similar to the clinical presentation of Leber congenital amaurosis (LCA) in humans. Recently a nonsense mutation in the beta subunit of the cGMP phosphodiesterase (Pdeb) gene has been defined as the cause for the rd phenotype in the mouse and has raised the question as to whether mutations in the human PDEB gene might cause LCA. We have previously cloned and characterized the human homologue of the mouse Pdeb gene and have mapped it to chromosome 4p16.3. In this study, a total of 23 LCA families of various ethnic backgrounds have been investigated. Linkage analysis using highly polymorphic (CA)n microsatellites has excluded the PDEB gene as a cause for LCA in 6 families. In the remaining 17 families, we have searched for mutations in the 22 exons of the PDEB gene using single-strand gel electrophoresis (SSGE). Multiple exonic polymorphisms have been determined. However, no DNA changes in the PDEB gene have been identified in our study population which could be causative for the LCA phenotype.     

Retardation of pain development: a case of recovery from congenital insensitivity to pain

Congenital analgesia is a rare genetic disorder. We report here that a 12-year-old boy was able to recover from congenital insensitivity to pain. Neurological examinations revealed that there was a 'stocking' distribution of pain decrement on the lower extremities under the patient's knee joints. Magnetic Resonance Imaging (MRI) of his brain showed gyrus thinning with sulcus widening at both sides of the parietal lobe. Southern blot hybridization probed with cDNAs of various opioid receptors did not detect any significant abnormality. Our results suggest that this rare case may not be genetically determined.     

彩色多普勒超声诊断先天性心脏病

彩色多普勒超声和二维超声心动图并用,不仅可观察和了解心脏解剖、形态及腔室大小,又能观察血流动力学改变。我们从1991年11月至1992年11月间应用上述方法诊断先天性心脏病共18例,均经我院和外院手术证实:室间隔缺损7例;房间隔缺损6例;动脉导管未闭5例,其中1例误诊为肺动脉瓣狭窄,诊断准确率达94.4％。我们认为彩色多普勒诊断先天性心脏病方法安全,准确无损伤,为临床及术前提供了较可靠的诊断依据,但检查者必须了解心脏及大血管的解剖关系,结合临床才能提高诊断准确率,减少漏、误诊的发生。     

Congenital pseudarthrosis of the clavicle: surgery or conservative treatment

Congenital pseudarthrosis of the clavicle is very rare. We report the results of two cases, one managed conservatively and the second surgically. Neither patient had functional deficit, but the one treated surgically ended up with a scar, persisting non-union and a short clavicle. Surgical treatment should be discouraged for this condition. Received: 17 June 2002, Accepted: 17 July 2002     

The posterior urethral valve uropathy: Results of treatment

Nineteen children treated for posterior urethral obstruction due to congenital valve in the University of Benin Teaching Hospital, Benin City, Nigeria, over a 9-year period have been analysed. Their ages ranged from birth to 12 years. Results show that associated kidney pathology may be irreversible even after successful excision of the valve. This determines the final prognosis, which is worse the younger the child at presentation.     

测定血浆心钠素对小儿心功能不全的诊断意义

采用放射免疫法测定60例心血管病患儿的血浆心钠素,结果,在心功能不全,先天性心脏病、心肌炎者,明显高于正常组;心功能不全组明显高于非心功能不全组。非心功能不全的心血管疾患(如:先天性心脏病、心肌炎)之间无显著差异。说明血浆心钠素测定可作为心功能不全判断指标,并可指导治疗。     

小儿先心病心电图P波,QRS波时限,振幅与左房和肺动脉压力的相关分析

小儿先心病术后左房夺和肺动脉压力的监测在ＩＣＵ中十分重要。心电图是论断和评价心脏疾患的常用方法。本文分析了３２例小儿先心病手术前后（伴肺动脉高压１６例）６个肢体导联心电图中Ｐ波和ＱＲＳ波时限总和及振幅总和与左房、肺动脉压力的关系。结果表明两者均有良好的相关性（ｒ＝０．８５￣０．８８，ｒ＝０ｍ７４￣０．８０，Ｐ〈０．０１），该法简单、方便，可广泛开展，尤其在术后未放置ＰＡ和ＬＡ管或在ＩＯＵ中已拨除Ｌ     

A Ro/SS-A auto-antibody positive mother's infant revealed congenital complete atrioventricular block,followed by insulin dependent diabetes mellitus and multiple organ failure

We experienced a congenital complete atrioventricular block infant who was born from a Ro/SS-A antibody positive mother. Ro/SS-A antibody was also found in this baby which was presumed to be mediated by the maternal placenta. Temporary cardiac pacing was required at birth and pacemaker implantation was performed at 9 months. At 11 months of age, the baby fell into shock and experienced multiple organ failure because of diabetes mellitus-induced coma. The association between congenital complete heart block and the Ro/SS-A antibody is well known. However, the accompaniment of insulin-dependent diabetes mellitus has not been reported previously. As the Ro/SS-A antigen appears in the cytoplasm of many tissues, the possibility of an association between Ro/SS-A antibody and diabetes mellitus is difficult to deny. We report this rare case to draw attention to the possibility that babies who are born from an Ro/SS-A antibody positive mother may develop diabetes mellitus as well as congenital complete heart block.