先天性手畸形的矫正失误分析

目的：提高对先天性手畸形的手术成功率。方法：应用显微外科技术，采用各类皮瓣移植术、松解术、植皮术、切除矫形术等对先天性手畸形进行矫正。结果：对先天性手畸形组成的认识失误，对先天性手畸形分类的认识失误，对先天性手畸形的手术失误。结论：并非每一个畸形手都需要手术治疗。没有确实的术前方案不能治疗手畸形。如果手术会进一步丧失功能比手术得不到肯定的功能改善危害更大。     

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.      

Mr imaging of hepatic nodular regenerative hyperplasia

Nodular regenerative hyperplasia (NRH), a rare condition that is commonly associated with noncirrhotic portal hypertension, is not well described in the MR literature. Three patients at two institutions were identified who had both abdominal MR imaging and pathologic evidence of NRH. All examinations were performed at 1.5 T and included axial T1- and T2-weighted spin-echo (SE) images. The MR studies were reviewed by two radiologists in consensus. Two patients had multiple liver lesions that had high signal components on T1-weighted images and were predominantly isointense with liver on the T2-weighted images. One patient had no focal lesions identified. NRH, when visualized on MR images, appears as multifocal masses with shortened Tl and T2 similar to liver. NRH should be considered in the differential diagnosis of hepatocellular tumors, especially in patients with a predisposing condition.     

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.     

Distribution of normal and abnormal fluid collections in the glenohumeral joint: Implications for MR arthrography

Although magnetic resonance (MR) images of the glenohumeral joint frequently demonstrate intraarticular fluid, no specific criteria have, to the authors' knowledge, been published that allow accurate assessment of the amount of fluid present. Also, despite the increasing use of MR arthrography of the shoulder, the optimal amount of intra-articular fluid that should be used with this technique has not been determined. The authors progressively distended the glenohumeral joint in six cadaveric shoulder specimens with a dilute gadopentetate dimeglumine solution and obtained MR images after injection of 2, 5, 10, 15, and 20 mL of the solution. The pattern of fluid distribution was evaluated, and these results were then used to estimate the amount of fluid that was present in the glenohumeral joint on MR images of 20 shoulders obtained in 12 asymptomatic volunteers. In 14 of these shoulders, intraarticular fluid was present; however, in none was more than 2 mL evident. Results of the cadaveric study also indicated that 15 mL of intraarticular fluid appears to be the optimal amount for MR arthrography.     

MRI of a family with focal abnormalities of gyration

Focal abnormalities of gyration (FAG) are developmental disorders that may occur in isolated patients or, as in the case being reported, as part of a familial disorder. Analysis of individuals in a family spanning three generations was carried out using MRI. Abnormalities, present in all members of generations II and III, included focal cortical dysplasia (three patients), focal cortical infolding (two patients) and schizencephaly (one patient); associated minor anomalies, such as white matter abnormalities, were seen in the remaining three members of generations II and III. MRI recognition of FAG in the family being reported proved useful in defining their phenotypical expression and providing proper counselling for individual family members. Received: 22 August 1996 Accepted: 7 October 1996     

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.