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.     

Autosomal recessive blepharoptosis,cleft lip/palate,dental anomalies,and ectrodactyly

Fluorescence in situ hybridization (FISH) with α-satellite DNA probes was used to study whole-arm chromosome translocation products in a family in which the propositus was shown to have a monosomy 18p/trisomy 20p imbalance. By this approach, we show that the chromosome 18 α-satellite DNA block is split into 2 smaller units, whereas the chromosome 20 breakpoint is not included within the α-satellite DNA region. We found no evidence to suggest that this split α-satellite DNA region has reduced or impaired the function of the centromere or that it contributed to the phenotype of the propositus. The FISH technique critically demonstrated the involvement of a whole-arm translocation in this case and provided accurate identification of breakpoints, which was not possible with standard banding techniques. © Wiley-Liss, Inc.     

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     

Cohen syndrome: fertility in a female patient

In this report we describe fertility in an adult female with Cohen syndrome. She gave birth to a son, now 1.5 years old, with discrete facial stigmata and slight psychomotor retardation.     

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。