通用型脊柱内固定系统治疗腰椎滑脱的疗效观察

目的评价通用型脊柱内固定系统(GSS)对腰椎滑脱内固定的疗效.方法回顾性分析采用通用型脊柱内固定系统治疗的21例腰椎滑脱患者.结果21例患者均获得随访,术后随访6～20个月,平均13个月.下腰痛症状完全消失者19例.所有患者术中行X线检查发现滑脱椎体完全复位,术后随访复位无变化.结论通用型脊柱内固定系统具有良好的复位与固定作用,是治疗腰椎滑脱有效方法之一.     

伤椎置钉GSS系统与传统手术治疗胸腰段脊柱骨折的临床效果比较

目的探讨伤椎置钉GSS系统在胸腰段脊柱骨折患者治疗中的临床应用效果。方法选取该院2010-03~2016-03收治的胸腰段脊柱骨折患者200例,按随机数字表法分为对照组和观察组各100例,对照组采用传统手术进行治疗,观察组采用伤椎置钉GSS系统进行治疗。术后第2周比较两组临床疗效。结果观察组治疗后椎体后缘高度、椎体前缘高度、Cobb角均优于对照组(P0.01);观察组治疗有效率高于对照组,差异均有统计学意义(P0.01)。结论伤椎置钉GSS系统在治疗胸腰段脊柱骨折中可使患者临床症状得到明显改善,可显著提高临床疗效,具有推广应用价值。     

经椎弓根植骨加GSS-Ⅱ型椎弓根螺钉系统治疗胸腰椎骨折

目的探讨经椎弓根植骨加GSS-Ⅱ型椎弓根螺钉系统固定治疗胸腰椎骨折对防止术后并发症的意义。方法采用GSS-Ⅱ型椎弓根螺钉系统复位固定并经椎弓根植骨治疗胸腰椎骨折40例,术前、术后摄X线片测定椎体前缘高度与正常高度的比值,了解患者后期有无腰背部疼痛情况,有无椎弓根螺钉松动、折断等并发症。结果术后骨折椎体高度明显恢复,椎体前缘高度与正常高度的比值以及椎管狭窄程度均明显改善,经过10～18个月随访,复位后椎体高度无丢失,无后凸畸形,无内固定松动、拔出、断钉等并发症。结论采用经椎弓根植骨加GSS—Ⅱ型椎弓根螺钉系统治疗胸腰椎骨折,可有效地防止后期椎体高度再丢失、后凸角度加大和内固定失败等并发症。     

A novel method of generating neuronal cell lines from gene-knockout mice to study prion protein membrane orientation

The technology of gene knockout and transgenic mice has allowed the study of the role of genes and their proteins in animal physiology and metabolism. However, these techniques have often been found to be limited in that some genetic manipulations of mice led either to a fatal phenotype or to compensations that mask the loss of function of the target protein. The experimentation on neurons from transgenic mice is particularly critical in the study of key proteins that may be involved in neurodegeneration. The cell fusion technique has been implemented as a novel way to generate cell lines from prion protein knockout mice. Fusion between neonatal mouse neurons and a neuroblastoma cell line have led to a Prnp degrees / degrees cell line that facilitates the study of the knockout phenotype. These cells are readily transfectable and allowed us to study the expression of prion protein mutants on a PrP-knockout background. Using this cell line we have examined the effect of PrP mutations reported to alter PrPc to a transmembrane form. Our results suggest that these mutations do not create transmembrane forms of the protein, but block normal transport of PrP to the cell membrane.     

GSS系统内固定治疗胸腰段脊柱脊髓损伤

目的：探讨GSS系统在脊柱脊髓损伤中的应用。方法：75例均在C臂X线监视下行切开复位，选择性椎管减压，GSS系统内固定，横突间或关节突间植骨融合。结果：随访时间8个月～3．5年。术后神经功能恢复满意，按frankel分级，除11例无恢复外其余分别提高1～3级。58个压缩椎体恢复正常或接近正常。结论：GSS内固定系统时脊柱进行三柱固定，符合生物力学，损伤小，疗效满意。     

86例GSS复位固定加椎弓根植骨治疗胸腰椎骨折临床观察

目的:评价通用型脊柱内固定系统(Genea Spine System,GSS)复位固定加椎弓根植骨治疗胸腰椎骨折的临床疗效。方法:我们对86例中重度以及极重度胸腰椎压缩骨折的患者,采用后路GSS椎弓根系统复位固定,并经椎弓根对复位后的"蛋壳样"伤椎体内植入同种异体骨。结果:中重度胸腰椎压缩骨折的70例经GSS复位固定后,椎体高度完全恢复,椎管占位完全消失,极重度胸腰椎压缩骨折的16例,术中复位时椎体高度大部分恢复,但椎管占位不能完全消除。结论:GSS复位固定结合经椎弓根植骨椎体增强术治疗中重度胸腰椎压缩骨折能恢复伤椎高度,消除椎管占位,效果满意。     

通用型脊柱内固定系统(GSS)治疗胸腰椎骨折

目的总结应用GSS内固定手术治疗胸腰椎骨折的方法和治疗效果。方法68例胸腰椎骨折患者采用GSS行后路减压植骨内固定术。结果经3~21个月随访,椎体平均高度由术前的前39.5%和后76.4%恢复到术后的前94.2%和后97.3%,Cobb角由术前平均23.8°恢复为术后平均2.9°。神经功能按ASIA标准评价,51例有1~3级恢复。结论GSS治疗胸腰椎骨折具有操作简便、复位效果好、植骨融合率高及固定可靠的优点,在脊柱内固定器械中具有较明显的优越性。     

Role of methionine adenosyltransferase 2A and S-adenosylmethionine in mitogen-induced growth of human colon cancer cells

BACKGROUND & AIMS: Two genes (MAT1A and MAT2A) encode for methionine adenosyltransferase, an essential enzyme responsible for S-adenosylmethionine (SAMe) biosynthesis. MAT1A is expressed in liver, whereas MAT2A is widely distributed. In liver, increased MAT2A expression is associated with growth, while SAMe inhibits MAT2A expression and growth. The role of MAT2A in colon cancer in unknown. The aims of this study were to examine whether MAT2A expression and SAMe and its metabolite methylthioadenosine (MTA) can modulate growth of colon cancer cells. METHODS: Studies were conducted using resected colon cancer specimens, polyps from Min mice, and human colon cancer cell lines RKO and HT-29. MAT2A expression was measured by real-time polymerase chain reaction and cell growth by the 3-(4,5-dimethylthiazolyl-2-yl)-2,5-diphenyltetrazolium bromide assay. RESULTS: In 12 of 13 patients and all 9 polyps from Min mice, the MAT2A messenger RNA levels were 200%-340% of levels in adjacent normal tissues, respectively. Epidermal growth factor, insulin-like growth factor 1, and leptin increased growth and up-regulated MAT2A expression and MAT2A promoter activity in RKO and HT-29 cells. SAMe and MTA lowered the baseline expression of MAT2A and blocked the growth factor-mediated increase in MAT2A expression and growth in colon cancer cell lines. Importantly, the mitogenic effect of these growth factors was inhibited if MAT2A induction was prevented by RNA interference. SAMe and MTA supplementation in drinking water increased intestinal SAMe levels and lowered MAT2A expression. CONCLUSIONS: Similar to the liver, up-regulation of MAT2A also provides a growth advantage and SAMe and MTA can block mitogenic signaling in colon cancer cells.     

Mutant prion protein D202N associated with familial prion disease is retained in the endoplasmic reticulum and forms ‘curly’ intracellular aggregates

Transmissible Spongiform Encephalopathies are fatal neurodegenerative disorders of humans and animals that are familial, sporadic, and infectious in nature. Familial disorders of humans include Gerstmann–Straussler–Scheinker disease (GSS), familial Creutzfeldt–Jakob disease (CJD), and fatal familial insomnia, and result from point mutations in the prion protein gene. Although neurotoxicity in familial cases is believed to result from a spontaneous change in conformation of mutant prion protein (PrP) to the pathogenic PrP-scrapie (PrP^Sc) form, emerging evidence indicates otherwise. We have investigated the processing and metabolism of mutant PrP D202N (PrP^202N) in cell models to elucidate possible mechanisms of cytotoxicity. In this report, we demonstrate that PrP^202N expressed in human neuroblastoma cells fails to achieve a mature conformation following synthesis and accumulates in the endoplasmic reticulum as ‘curly’ aggregates. In addition, PrP^202N cells show increased sensitivity to free radicals, indicating that neuronal susceptibility to oxidative damage may account for the neurotoxicity observed in cases of GSS resulting from PrP D202N mutation. Yaping Gu and Susamma Verghese contributed equally.     

Genetic counseling for prion disease: Updates and best practices

Prion disease is a rare, fatal, and often rapidly progressive neurodegenerative disease. Ten to fifteen percent of cases are caused by autosomal dominant gain-of-function variants in the prion protein gene, PRNP. Rarity and phenotypic variability complicate diagnosis, often obscuring family history and leaving families unprepared for the genetic implications of an index case. Several recent developments inspire this update in best practices for prion disease genetic counseling. A new prion-detection assay has transformed symptomatic diagnosis. Meanwhile, penetrance, age of onset, and duration of illness have been systematically characterized across PRNP variants in a global cohort. Clinically, the traditional genotype–phenotype correlation has weakened over time, and the term genetic prion disease may now better serve providers than the historical subtypes Creutzfeldt-Jakob disease, fatal familial insomnia, and Gerstmann-Sträussler-Scheinker disease. Finally, in the age of genetically targeted therapies, clinical trials for prion disease are being envisaged, and healthy at-risk individuals may be best positioned to benefit. Such individuals need to be able to access clinical services for genetic counseling and testing. Thus, this update on the genetics of prion disease and best practices for genetic counseling for this disease aims to provide the information needed to expand genetic counseling services.