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.     

腰穿放液治疗160例外伤性蛛网膜下腔出血的体会

目的：探讨腰穿放液对外伤性蛛网膜下腔出血的作用。方法：对１６０名外伤性蛛网膜下腔出血的病人行腰穿放液，少则２次，多则７次。结果：所有病人症状均好转，从脑脊液的力学上看脑脊液恢复正常性状的时间缩短，结论：腰穿放液治疗外伤性蛛网膜下腔出血是十分有效的方法，近期内临床症状明显改善，远期并发症减少。     

MRI of the brain in chronic carbon monoxide poisoning

We examined 13 patients with chronic carbon monoxide (CO) poisoning by magnetic resonance imaging (MRI); all of them had been in an explosion in a coal mine 25 years previously. Symmetrical globus pallidus lesions were observed in 12, as was degeneration of the white matter, with focal cortical atrophy. The temporal parietal and occipital lobes were usually affected, the parietooccipital region being the most frequently and extensively damaged. Of the 12 patients with white matter degeneration 7 had definitely asymmetrical cortical and subcortical lesions. There were 6 patients with dilated temporal horns, probably due to atrophy of the hippocampal gyri. A history of CO inhalation and an awareness of the typical distributions of lesions are important for recognition of the effects of CO poisoning, especially when patients are in the chronic stage.     

Cancellous Bone Structure in the Growing and Aging Lumbar Spine in a Historic Nubian Population

There is abundant data on cancellous bone in the aging human spine, but little relating to the growing vertebral cancellous bone in childhood and adolescence. The purpose of this study was to map vertebral cancellous bone in a growth and age series of historic skeletal samples and to make comparisons with data published on recent material. Lumbar vertebral bodies were collected from 65 skeletons (0–60 years) from a medieval Nubian population. Ethnohistoric information was collected to interpret conditions that might have influenced bone structure and metabolism. The cancellous bone was studied three dimensionally, using stereophotography and scanning electron microscopy and morphometrically by performing a semiautomatic structural analysis on digitized backscattered electron images of polymethacrylate-embedded material. The cancellous bone structure in the children consisted mainly of a densely packed, uniform network of small rodlike trabeculae. The greatest bone volume fraction with small, more platelike trabeculae was observed during adolescence. In young adults, larger platelike trabeculae were present in the central zone and smaller trabeculae in the superior and inferior zones, as described for modern skeletal material. Structural changes associated with aging were observed much sooner than in modern man. By the estimated age of approximately 50–60 years, the predominant architectural elements were slender rarified rods in both sexes. The ethnohistorical data suggest that this was essentially a black African population of physically active peasants, not likely to suffer Vitamin D insufficiency or deficient calcium intake. Thus an earlier onset of the biological age changes in cancellous bone found in modern populations was probably prevalent. Received: 1 March 1996 / Accepted: 31 December 1996     

腰椎间盘突出合并椎管狭窄的手术治疗

报告手术治疗腰椎间盘突出症合并退行性腰椎管狭窄症１０４例。术后随访９０例，随诊时６个月～６年。优良率８６．５％，无腰椎不稳和腰椎滑脱等并发症。为获得优良效果，作者强调在处理椎间盘突出的同时必须彻底解除侧隐窝及神经根管，黄韧带肥厚对神经根的压迫，才能彻底根除症状     

胶原酶溶解术治疗腰椎间盘突出症

采用国产胶原酶行腰椎间盘内注射治疗腰椎间盘突出症９０例。有效率为９３％，优良率为８４％。作者体会该方法创伤小，无出血，对椎管内无干扰。只要严格选择适应症，掌握正确的操作方法，无疑是一种有效的治疗方法。     

A Study on Extension－Flexion Dynamic Lumbar Spine Radiographsin Patients with Lumbar Intervertebral Disc Herniation

ＡＳｔｕｄｙｏｎＥｘｔｅｎｓｉｏｎ－ＦｌｅｘｉｏｎＤｙｎａｍｉｃＬｕｍｂａｒＳｐｉｎｅＲａｄｉｏｇｒａｐｈｓｉｎＰａｔｉｅｎｔｓｗｉｔｈＬｕｍｂａｒＩｎｔｅｒｖｅｒｔｅｂｒａｌＤｉｓｃＨｅｒｎｉａｔｉｏｎＡＳｔｕｄｙｏｎＥｘｔｅｎｓｉｏｎ－Ｆｌｅｘｉ...     

Anterior lumbar fusion using a hybrid interbody graft

Summary This is a radiographic report of 40 patients (20 men, 20 women) who underwent anterior lumbar interbody fusions (73 levels) utilizing a “hybrid” interbody graft composed of femoral cortical allograft (FCA) bone and iliac crest cancellous autograft bone. The average age at surgery was 38 years (range 17–64 years), and follow-up averaged 1.4 years (range 1.0–2.4 years). Nineteen of the patients had undergone previous lumbar surgery. Thirty-two patients (63 levels) underwent anterior fusion combined with some type of posterior fixation, and eight patients (10 levels) had no posterior fixation. Types of posterior fixation included: for 20 patients (36 levels) Steffee variable screw placement fixation, for 10 patients (23 levels) translaminar facet screws (TFS), for 1 patient (3 levels) Knodt rods and for 1 patient (1 level) facet screws. Based on the persistence of lucent lines at the graft-host interface, three patients (one level each) were felt to have non-unions at their latest follow-ups at 1.4, 1.5 and 2.0 years, respectively. Two of these patients had no posterior fixation, and the other had TFS fixation. The overall fusion rate was 96% (70 of 73 levels). The fusion rate for all levels treated with posterior fixation was 98% compared with 75% for those without fixation. Intervertebral disc heights (IVDH) were measured on all films and corrected for magnification with computer assistance. On average, the IVDH was increased postoperatively but returned to preoperative values at follow-up. IVDH loss was independent of the type of instrumentation used. No complications arose from the use of the hybrid graft. Incorporation of the allograft portion of the graft is slow and was felt to be complete in only 7 of the 73 levels at follow-up. We conclude that the hybrid interbody graft technique is a safe and reliable method for performing anterior lumbar interbody fusions and should be combined with some type of posterior fixation. Long-term follow-up will be required to assess the behaviour of the allograft until incorporation is complete.     

开放手术观察腰椎间盘突出症溶核失败45例分析

目的 通过开放手术观察分析椎间盘髓核化学溶解术治疗腰椎间盘突出症失败原因。方法 收集溶核失败的腰椎间盘突出症45例行开放手术治疗。结果 术中见45例硬膜外脂肪完全消失，43例髓核未见溶解，2例髓核溶解呈糊状但未被吸收，21例伴有侧隐窝狭窄，15例突出物与神经根粘连，20例黄韧带增厚，2例椎管骨性狭窄，14例突出物钙化。结论 腰椎间盘突出症病变间隙合并有侧隐窝狭窄、神经根粘连、椎管狭窄、突出物钙化等，不是溶核治疗的适应证。