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Norrbottnian congenital insensitivity to pain. 北爱尔兰人天生对疼痛不敏感。
Pub Date : 2006-04-01
Jan K Minde

Congenital insensitivity to pain is a rare hereditary neuropathy. We present patients from a large family in Norrbotten, Sweden with a mutation in the nerve growth factor beta gene (NGFbeta). Using a model of recessive inheritance, we identified an 8.3-Mb region on chromosome 1p11.2-p13.2 shared by the affected individuals in the family. Analysis of candidate genes in the disease-critical region revealed a mutation in the coding region of the NGFbeta gene specific for the disease haplotype. All three severely affected individuals were homozygous for the mutation. The disease haplotype was also observed in both unaffected and mildly affected family members, but in heterozygote form. We have identified 43 patients, 3 homozygous and 40 heterozygous. The homozygous patients have a severe congenital form with onset of symptoms at an early age, most often affecting the lower extremities with insidious progressive joint swellings or painless fractures. Fracture healing was normal, but the arthropathy was progressive, resulting in disabling Charcot joints with gross deformity and instability. These patients lacked deep pain perception in bones and joints and had no protective reflexes, leading to gross bone and joint complications. They also had abnormal temperature perception but normal ability to sweat. There was no mental retardation. Clinically, they fit best into the group HSAN type V. Sural nerve biopsies showed a moderate loss of thin myelinated fibers (Adelta-fibers) and a severe reduction of unmyelinated fibers (C-fibers). 14 of the 40 heterozygous adult patients had mild or moderate problems with joint deformities, usually with only slight discomfort. Treatment was conservative with (if needed) different kinds of orthosis and in three cases joint replacement. Nine patients had neuropathy, and nine patients had no symptoms. In congenital disorders like these, it is important to evaluate the age and also the slowly progressive nature, when considering treatment. There is an increased risk of growth disturbances in the very young. The orthopedic operations should therefore be planned from a long-term point of view, but patient education and orthosis are cornerstones in the treatment--to delay the development of neuropathic arthropathy. Arthrodesis, limb lengthening and spinal decompression with fusions are the only elective procedures that seem reasonable. This Norrbottnian disease is also interesting as a model system for the study of pain.

先天性疼痛不敏感是一种罕见的遗传性神经病变。我们介绍了来自瑞典Norrbotten的一个大家庭的患者,他们的神经生长因子β基因(ngfβ)发生了突变。利用隐性遗传模型,我们发现家族中受影响个体在染色体1p11.2-p13.2上共有8.3 mb区域。对疾病关键区候选基因的分析显示,该疾病单倍型特异性ngf - β基因编码区发生突变。所有三个受严重影响的个体都是突变的纯合子。在未受影响和轻度受影响的家庭成员中也观察到该疾病的单倍型,但以杂合子形式存在。共鉴定43例,其中纯合子3例,杂合子40例。纯合子型患者有严重的先天性形式,早期出现症状,最常影响下肢,伴有潜伏的进行性关节肿胀或无痛性骨折。骨折愈合正常,但关节病变是进行性的,导致Charcot关节失能,伴有明显畸形和不稳定。这些患者缺乏骨骼和关节的深度痛觉,没有保护性反射,导致骨和关节的严重并发症。他们也有异常的温度感知,但正常的出汗能力。没有智力障碍。临床上,他们最适合HSAN v型组。腓肠神经活检显示薄髓鞘纤维(adelta纤维)中度丢失,无髓鞘纤维(c -纤维)严重减少。40例杂合子成年患者中有14例有轻度或中度关节畸形问题,通常只有轻微的不适。治疗是保守的(如果需要)不同种类的矫形器和三例关节置换术。9例有神经病变,9例无症状。对于像这样的先天性疾病,在考虑治疗时,重要的是要评估患者的年龄和缓慢进展的性质。在非常年轻的时候,生长障碍的风险会增加。因此,骨科手术应从长远的角度进行规划,但患者教育和矫形器是治疗的基石,以延缓神经性关节病的发展。关节融合术、肢体延长术和脊柱减压融合术是唯一合理的选择。这种北方疾病作为疼痛研究的模型系统也很有趣。
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引用次数: 0
Chronic neck pain. An epidemiological, psychological and SPECT study with emphasis on whiplash-associated disorders. 慢性颈部疼痛。流行病学,心理学和SPECT研究,重点是鞭打相关疾病。
Pub Date : 2006-02-01
Michel Guez

Chronic neck pain, a common cause of disability, seems to be the result of several interacting mechanisms. In addition to degenerative and inflammatory changes and trauma, psychological and psychosocial factors are also involved. One common type of trauma associated with chronic neck pain is whiplash injury; this sometimes results in whiplash-associated disorder (WAD), a controversial condition with largely unknown pathogenetic mechanisms. We studied the prevalence of chronic neck pain of traumatic and non-traumatic origin and compared the prevalence of, sociodemographic data, self-perceived health, workload and chronic low-back pain in these groups. In a ready-made questionnaire (MONICA study), we added questions about cervical spine and low-back complaints. 6,000 (72%) completed a self-administered questionnaire. 43% reported neck pain: 48% of women and 38% of men. Women of working age had more neck pain than retired women, a phenomenon not seen in men. 19% of the studied population suffered from chronic neck pain and it was more frequent in women. A history of neck trauma was common in those with chronic neck pain. Those with a history of neck trauma perceived their health worse and were more often on sick-leave. About 50% of those with traumatic and non-traumatic chronic neck pain also had chronic low-back pain. We assessed the subjective and objective neuropsychological functioning in 42 patients with chronic neck pain, 21 with a whiplash trauma, and 21 without previous neck trauma. Despite cognitive complaints, the WAD patients had normal neuropsychological functioning, but the WAD group especially had deviant MMPI results-indicating impaired coping ability and somatization. WAD patients had no alterations in cerebral blood-flow pattern, as measured by rCBF-SPECT and SPM analysis, compared to healthy controls. This contrasts with the non-traumatic group with chronic neck pain, which showed marked blood-flow changes. The blood-flow changes in the non-traumatic group were similar to those described earlier in pain patients but--remarkably enough--were different from those in the WAD group. Chronic neck pain of whiplash and non-traumatic origin appears to be unique in some respects. A better understanding of the underlying pathological mechanisms is a prerequisite for prevention of the development of such chronic pain syndromes and for improvement of the treatment of patients with severe symptoms.

慢性颈部疼痛,残疾的常见原因,似乎是几个相互作用的机制的结果。除了退行性和炎症性变化和创伤外,心理和社会心理因素也涉及其中。与慢性颈部疼痛相关的一种常见创伤类型是鞭扭伤;这有时会导致鞭打相关疾病(WAD),这是一种有争议的疾病,其发病机制在很大程度上尚不清楚。我们研究了创伤性和非创伤性慢性颈痛的患病率,并比较了这些人群的患病率、社会人口统计数据、自我感知健康、工作量和慢性腰痛。在一份现成的问卷(MONICA研究)中,我们增加了关于颈椎和腰背部不适的问题。6000人(72%)完成了一份自我管理的问卷。43%的人表示颈部疼痛:48%的女性和38%的男性。工作年龄的女性比退休女性有更多的颈部疼痛,这一现象在男性中没有出现。19%的研究对象患有慢性颈部疼痛,其中女性更为常见。颈外伤史常见于慢性颈痛患者。那些有颈部外伤史的人认为自己的健康状况更差,而且更经常请病假。大约50%的创伤性和非创伤性慢性颈部疼痛患者同时患有慢性腰痛。我们评估了42例慢性颈部疼痛患者的主观和客观神经心理功能,21例有颈部扭伤创伤,21例以前没有颈部外伤。尽管有认知方面的抱怨,但WAD患者的神经心理功能正常,但WAD组的MMPI结果尤其异常,表明应对能力和躯体化受损。通过rCBF-SPECT和SPM分析,与健康对照组相比,WAD患者的脑血流模式没有改变。这与慢性颈部疼痛的非创伤组形成对比,后者显示出明显的血流变化。非创伤组的血流量变化与前面描述的疼痛患者相似,但与WAD组的血流量变化非常明显。鞭扭伤和非创伤性起源的慢性颈部疼痛在某些方面似乎是独特的。更好地了解潜在的病理机制是预防此类慢性疼痛综合征发展和改善严重症状患者治疗的先决条件。
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引用次数: 0
One-year report from the Swedish National Spine Register. Swedish Society of Spinal Surgeons. 瑞典国家脊柱登记处一年的报告。瑞典脊柱外科学会。
Pub Date : 2005-10-01 DOI: 10.1080/17453690510041950
Björn Strömqvist, Peter Fritzell, Olle Hägg, Bo Jönsson
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引用次数: 55
The extracellular actin scavenger system in trauma and major surgery. Clinical and experimental studies. 创伤和大手术中的细胞外肌动蛋白清除系统。临床和实验研究。
Pub Date : 2005-06-01
Benny Dahl
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引用次数: 0
Outcome assessment in lumbar spine surgery. 腰椎手术的预后评估。
Pub Date : 2005-06-01
Gustavo Zanoli

Background: There is no consensus regarding outcomes assessment in spine patients. When using Health-Related Quality of Life (HRQoL) in assessing outcomes of treatment, normative data for different diagnoses are needed to allow comparisons between existing and future studies. The most used generic instrument for HRQoL evaluation in spine pathologies is SF-36. There is no standard definition of important differences in spine surgery patients and no standard reference for minimal clinically important difference.

Objective: The overall aim of this thesis was to increase understanding of some aspects of outcome measurement in patients operated on for lumbar spine problems using existing prospective data available at the spine section of the Orthopedics Department of the University of Lund, and, moreover, to explore potentials and weaknesses in the methodology of retrospectively analysis of prospectively collected observational data.

Methods: A systematic web-search and review of the literature and a retrospective analysis of prospective cohort data collected within the data collection protocol in use by the Swedish Spine Register. Since 1993 all persons undergoing elective lumbar surgery at the spine section of the Orthopedics Department of the University of Lund were included in the prospective registration protocol either in its first version (1993-1997), which was the source of data for paper III, or in its revised version after 1998. Initial information at baseline (the day before surgery) included age, sex, smoking habits, duration of preoperative back and leg pain in months, duration of preoperative sickleave in months, number of previous operations, patient's working status, diagnostic techniques pre- and postoperatively VAS scores analgesic intake, walking distance. Postoperatively, change in leg and back pain, respectively, was recorded on a 5-point Likert Scale as compared to preoperative status, patient satisfaction was recorded on a 3-point Likert Scale.

Results: The number of proposed outcomes, outcome scores, outcome instruments is incredibly high: no new HRQoL instruments specific for LBP are needed. The data collection protocol of the Swedish Spine Register studied can reliably detect postoperative improvements between large groups of patients such as in a Register. Pain intensity measured on the VAS correlates significantly to other indicators of perceived pain, but correlation is not as strong as it could be if they were all measuring the same construct. HRQoL as measured by SF-36 in patients scheduled for lumbar spine surgery showed a pronounced reduction compared to normal and LBP population. The use of norm-based scoring for SF-36 can help interpretation and simplify graphic representation of the findings. SF-36 outcomes 1-year after surgery for lumbar spine disorders are improved, although other factors or natural history could contribute to

背景:对于脊柱患者的预后评估尚无共识。当使用健康相关生活质量(HRQoL)评估治疗结果时,需要不同诊断的规范性数据,以便对现有研究和未来研究进行比较。最常用的评估脊柱病理HRQoL的通用仪器是SF-36。脊柱外科患者的重要差异没有标准定义,最小临床重要差异也没有标准参考。目的:本论文的总体目的是利用隆德大学骨科脊柱科现有的前瞻性数据,增加对腰椎问题手术患者结局测量的某些方面的理解,此外,探讨前瞻性收集的观察性数据回顾性分析方法的潜力和不足。方法:通过系统的网络搜索和文献回顾,并对瑞典脊柱登记处使用的数据收集协议中收集的前瞻性队列数据进行回顾性分析。自1993年以来,所有在隆德大学骨科脊柱科接受择期腰椎手术的患者都被纳入前瞻性登记方案的第一版(1993-1997),这是论文III的数据来源,或在1998年之后的修订版中。基线(术前一天)的初始信息包括年龄、性别、吸烟习惯、术前腰腿疼痛持续时间(月)、术前病假持续时间(月)、既往手术次数、患者工作状态、诊断技术、术前和术后VAS评分、镇痛药摄入、步行距离。术后,与术前相比,腿部和背部疼痛的变化分别用5分李克特量表记录,患者满意度用3分李克特量表记录。结果:建议结局、结局评分、结局工具的数量高得令人难以置信:不需要新的专门针对LBP的HRQoL工具。所研究的瑞典脊柱登记的数据收集方案可以可靠地检测大组患者之间的术后改善,例如在登记册中。VAS测量的疼痛强度与感知疼痛的其他指标显著相关,但如果它们都测量相同的结构,相关性就没有那么强。用SF-36测量的腰椎手术患者的HRQoL与正常人群和腰痛人群相比明显降低。使用基于规范的SF-36评分可以帮助解释和简化结果的图形表示。腰椎疾患手术后1年的SF-36结果得到改善,尽管其他因素或自然史可能有助于这种改善。在我们的样本中,脊柱手术的整体效果与非常成功的骨科干预的效果大小非常相似。标准化结果测量的使用允许进行国际比较,尽管在解释差异时应谨慎使用。结论:在不需要额外昂贵的数据收集和使用有限的经济资源的情况下,对腰椎问题手术患者结局测量的某些方面有了更多的了解。已经提出了参考值和更多的推测性数据(如效应大小和MCIDs)。生态方法已经提出和讨论:明确尊重其局限性,它可以用来获得相关信息,也在其他临床领域。
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引用次数: 0
Fixation of the cemented acetabular component in hip arthroplasty. 髋关节置换术中骨水泥髋臼假体的固定。
Pub Date : 2005-04-01
Gunnar Flivik
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引用次数: 0
New polymer materials in total hip arthroplasty. Evaluation with radiostereometry, bone densitometry, radiography and clinical parameters. 新型高分子材料在全髋关节置换术中的应用。用放射立体测量、骨密度测量、x线摄影和临床参数评价。
Pub Date : 2005-02-01
Georgios Digas

Aims: To evaluate the outcome of different types of polyethylene, bone cements and one design of uncemented fixation with porous and ceramic coating using radiostereometry, bone densitometry, conventional radiography and clinical parameters.

Materials and methods: Study I: 201 patients were extracted from 5 prospective randomised studies to evaluate femoral head penetration at two years with radiostereometry in four basic designs, cemented Lubinus and Reflection cups, uncemented Trilogy and Reflection cups. Studies II and III: 60 patients (61 hips) were randomised to receive either highly cross-linked or conventional all PE cups. 32 patients with bilateral arthrosis received hybrid THA with highly cross-linked PE on one side and conventional on the contra lateral side. Femoral head penetration and the migration of the cups were evaluated with radiostereometry in the supine and standing positions. DEXA and conventional radiography were used to evaluate the bone mineral density and radiolucencies around the cemented acetabular component. Studies IV and V: 90 patients (97 and 96 hips respectively) were stratified depended on age, gender, diagnosis and preoperative BMD to create 3 main groups of socket fixation. In the first group fluoride containing cement was used, in the second group Palacos cum Gentamicin and in the third hybrid THA with porous coated HA/TCP cup. In the hybrid group the fixation of the femoral component was again randomised to either of the two cements. The results on femoral and acetabular sides are presented separately in studies IV and V, respectively.

Results: Study I: Cups with polyethylene sterilized in EtO had almost twice the proximal and 3D penetration rates compared with gamma-sterilized polyethylene. Regression analysis showed that the type of sterilization, age and weight was the most important factors affecting the penetration rate. Studies II and III: In the cemented study the proximal penetration was lower in the study group independent of position at 3 years, while in the hybrid study the penetration was lower in the study group only in the supine position at 2 years. The migration of the cup did not differ between the plastics in both studies. At 2 years the periprosthetic radiolucency and BMD did not differ significantly between the 2 types of PE used in the cemented study. Study IV: The subsidence of the stem did not differ between the groups, but the periprosthetic BMD decreased more in fluoride cement group at 2 years. Conventional radiography revealed higher progression of radiolucent lines in the Palacos group, but only in one region. Study V: The proximal migration of the cup was almost similar in all three groups. The three dimensional migration was increased in patients with osteoporosis. Postoperative radiolucent lines tended to disappear with use of porous coating covered with HA/TCP.

Conclusions: Study I: EtO ster

目的:通过放射立体测量、骨密度测量、常规x线摄影和临床参数评价不同类型聚乙烯骨水泥和多孔陶瓷涂层非骨水泥固定的效果。材料和方法:研究I:从5项前瞻性随机研究中提取201例患者,在4种基本设计(Lubinus和反射杯,未胶合的Trilogy和反射杯)中评估股骨头穿透2年时的放射立体测量。研究II和III: 60例患者(61髋)随机接受高交联或传统的全PE杯。32例双侧关节患者接受了单侧高交联PE和对侧常规PE的混合THA。采用仰卧位和站立位放射立体测量法评估股骨头穿透和股骨头杯的移动情况。使用DEXA和常规x线摄影评估骨水泥臼假体周围的骨矿物质密度和放射性。研究IV和V:根据年龄、性别、诊断和术前骨密度对90例患者(分别为97和96髋)进行分层,形成3个主要的窝内固定组。第一组使用含氟水泥,第二组使用Palacos和庆大霉素,第三组使用多孔包被HA/TCP杯的混合THA。在混合组中,股骨假体的固定再次随机分配到两种水泥中的任何一种。股骨侧和髋臼侧的结果分别在研究IV和V中报道。结果:研究一:EtO灭菌聚乙烯杯的近端和三维穿透率几乎是γ灭菌聚乙烯杯的两倍。回归分析表明,灭菌类型、年龄和体重是影响普及率的最重要因素。研究II和III:在骨水泥研究中,研究组在3年时近端穿透较低,与体位无关,而在混合研究中,研究组在2年时仅在仰卧位下穿透较低。在两项研究中,杯子的移动在塑料之间没有区别。2年后,在骨水泥研究中使用的两种PE之间,假体周围的放射性透光率和骨密度没有显著差异。研究四:两组间假体的下陷没有差异,但2年时氟化水泥组假体周围骨密度下降更多。常规放射照相显示Palacos组放射透光线进展较高,但仅在一个区域。研究五:在三组中,杯的近端移动几乎相似。骨质疏松患者的三维偏移量增加。使用HA/TCP覆盖的多孔涂层后,术后放射线线趋于消失。结论:研究一:EtO灭菌聚乙烯增加股骨头穿透。年龄和体重也是渗透率的重要预测因子。研究II和III:高交联聚乙烯主要在一年后降低了穿透率,可能反映了磨损较少。所研究的两种PE的不同力学性能对骨水泥杯的早期固定没有影响。研究四:在丙烯酸骨水泥中加入氟化物固定股骨假体没有明显的优势。研究五:与Palacos使用庆大霉素相比,使用含氟骨水泥或非骨水泥固定并不能改善早期窝的稳定性。
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Acta orthopaedica. Supplementum
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