经导管同期封堵治疗膜周部室间隔缺损合并房间隔缺损

目的　探讨经导管介入同期治疗膜周部室间隔缺损 (VSD)合并房间隔缺损 (ASD)的可行性、方法及疗效。方法　 4例患者 ,年龄为 12～ 2 6岁。术前超声检查提示VSD合并ASD。VSD均为膜周部缺损 ,缺损直径 3～ 6mm ,缺损上缘距主动脉瓣 2～ 6mm。ASD均为继发孔型 ,缺损直径 5～ 8mm。4例患者均于术中先行左心室造影 ,确定VSD适合封堵后 ,先行VSD封堵 ,最后行ASD封堵。结果　 4例患者均经导管一次封堵治疗成功。左心室造影显示VSD呈囊袋型 3例 ,囊袋直径分别为 4、5和 10mm ,封堵器的直径分别为 4、8和 12mm。 1例缺损为管状 ,直径 3.5mm ,用 4mm的封堵器治疗成功。4例患者ASD伸展径为 6～ 10mm ,封堵器直径为 6～ 12mm。所有患者术中及术后无并发症。结论　经导管介入同期封堵治疗膜周部VSD合并ASD具有技术上的可行性、安全性和良好的治疗效果     

Computer tomography in children and adolescents with suspected malformation of the petrous portion of the temporal bone

Purpose: To demonstrate HRCT findings and their therapeutic relevance in suspected congenital hearing disorders. Material and Methods: It was checked in 96 young patients if HRCT findings of the temporal bone could explain functional findings. Furthermore, the therapeutic consequences were noted. Results: Normal CT and normal functional findings were obtained in 49 temporal bones (TB). In conductive hearing loss (41 TB), dysplasias of the conducting apparatus (37 TB) and inflammatory changes (3 TB) were found. Combined hearing loss (18 TB) was clarified completely or partially in half the cases. There were 22 dysplasias of the inner ear, 3 dysplasias of the middle ear, 1 abandoned examination (2 TB), and 55 normal CT findings in senorineural hearing disorders (82 TB). 1 retardate had a malformation of the inner ear and, contralaterally, inflammatory middle ear. In cases of vestibular disorders (24 TB), 14 malformations of the inner ear were detected. An indication for an operation was given in 23 TB. In 22 TB, it was contraindicated. The CT was one preliminary examination to a cochlea implant in 19 patients. The therapy was carried on with hearing devices in the other patients. Conclusion: HRCT is an important method in diagnosis and therapeutic planning of suspected malformations of the temporal bone.      

Left-sided superior vena cava: diagnosis by magnetic resonance imaging

We describe a case of left-sided superior vena cava. The diagnosis was suggested by chest radiograph after central venous catheter placement. This was subsequently confirmed by magnetic resonance imaging. Received: 4 March 1997 Accepted: 21 March 1997     

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.     

Evaluation of the treatment of idiopathic clubfoot by using the Ponseti method

The initial treatment of congenital idiopathic talipes equinovarus (clubfoot) is most often nonsurgical. However, surgical treatment in the form of posteromedial release is often undertaken after failure of conservative measures. The prevalence of both immediate and long-term complications in surgically treated clubfeet has cultivated a renewed interest in nonsurgical treatment. The Ponseti method for treating clubfoot has seen a revived interest among those caring for infantile clubfeet. We report on our first 34 infants (57 clubfeet) treated by using the techniques and principles described by Ponseti. Using a standard scoring system, 54 of 57 clubfeet were successfully corrected without requiring posteromedial release. Only 2 patients (3 clubfeet) required extensive surgical correction. There were 6 relapses. In all recurrent cases, there was a lack of compliance with the straight-last shoe and foot abduction bar regimen. Based on this level of initial success, we believe that posteromedial release is no longer necessary for the majority of cases of congenital clubfeet.     

ACARDIAC TWIN FETUS WITH SEVERE HYDROPS FETALIS AND BILATERAL TALIPES VARUS DEFORMITY

Twin reversed-arterial-perfusion syndrome (TRAPS) is a rare complication of monochorionic twin pregnancies. TRAPS is characterized by the hemodynamic dependence of a “recipient” twin from a “pump” twin. The “recipient” twin exhibits lethal abnormalities, such as acardia and acephaly. Circulatory failure of the normal twin derives from the existence of arterio-arterial and veno-venous anastomoses within the placenta that allow retrograde perfusion of the acardiac twin by blood coming from the normal twin. Acardiac twinning is the most extreme manifestation of the twin-twin transfusion syndrome. This occurs in 1 in 100 monozygotic twin pregnancies and 1 in 35,000 births. We report a case of diamnionic monochorionic female twins in which the acardiac twin demonstrated severe hydrops fetalis and bilateral talipes varus deformity. Cesarean section was performed on a 27-year-old hypertensive gravida 2, para 1 mother for fetal indications at 32 6/7 weeks gestation. The acardiac fetus had a two-vessel umbilical cord measuring 43.5 cm in length and 0.8 cm in diameter. The proximal end inserted into the root of the normal twin's umbilical cord in an acute angle forming a “v” close to the placental disc. Structures rostral to the thorax were absent except for a round mass of flesh with three small buds in place of the head and neck, and bilateral upper extremities. Only the kidneys, right adrenal, small and large intestine, and rudimentary urinary bladder were present. Both feet demonstrated talipes varus deformity. The fetus was severely hydropic. The subcutaneous fat measured 4.5 cm in maximum thickness. The normal twin had a protracted course complicated with respiratory distress syndrome, moderate secundum atrial septal defect with left to right shunt, and thrombocytopenia of prematurity. The baby was eventually discharged after approximately 1 month. At the time of this report, 5 months postpartum, the neonate is growing and developing normally. To our knowledge, this is the first report of severe hydrops fetalis and talipes varus deformity in an acardiac twin.     

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。