The aim of the present study was to report a clinical survey of hereditary multiple exostoses (HME) in a large Chinese pedigree, and the identification of a novel deletion mutation of exostosin glycosyltransferase 2 (EXT-2) gene. A patient with multiple exostoses with huge cartilage-capped tumors in scapula, knees and ankles received surgery in Department of Orthopedics (Shanghai Changhai Hospital). A total of 20 family members were recruited to the study, with seven members (five male; two female) diagnosed as HME. The family members of the patients with HME were examined, clinical data and peripheral blood samples were collected, and their DNA was sequenced. The incidence of HME in this family pedigree was 35%. Exostoses were most frequently in the tibiae with occurrence in six patients, followed by ribs, femurs, radii, fibulae, scapulae and humeri. DNA sequencing of peripheral blood revealed a novel deletion mutation, c.824-826delGCA, in exon 5 of the EXT-2 gene, which was observed in all the patients with HME, but not in the healthy family members. Several characteristics of HME in the pedigree were observed, such as susceptibility of male gender, decreased average age of onset and height and increased severity of clinical symptoms with generations.

TSCI have dyskinesia and sensory disturbance that can cause various life-threaten complications. The patients with traumatic spinal cord injury (TSCI), seriously affecting the quality of life of patients. Based on the epidemiology of TSCI and domestic and foreign literatures as well as expert investigations, this expert consensus reviews the definition, injury classification, rehabilitation assessment, rehabilitation strategies and rehabilitation measures of TSCI so as to provide early standardized rehabilitation treatment methods for TSCI.

目的 研究颈椎退变病人不同体位下的甲状软骨与颈椎节段的对应关系.方法 搜集2018年1月至2018年7月100例行颈前路手术病人的术前X线影像资料,测量甲状软骨前缘中点对应的颈椎节段,描述颈椎不同位置下对应节段的分布关系,并分析影响其变化的相关因素.结果 中立位状态下,甲状软骨对应的节段主要分布在C5～C6范围,占93.0％(93/100);过伸位状态下,甲状软骨对应的节段主要分布在C4/5～C5/6范围,占82.0％(82/100).影响甲状软骨对应节段的最主要因素是性别.颈椎过伸位下,男性病人甲状软骨对应节段主要分布在C5和C5/6,占78.6％(44/56);女性病人甲状软骨的对应节段主要分布在C4/5和C5,占72.7％(32/44);女性甲状软骨对应节段要高于男性.上述指标比较,差异具有统计学意义(P均<0.05).结论 颈椎不同位置下甲状软骨的对应节段存在差异,随着颈部的后伸运动,甲状软骨对应的颈椎节段呈上移的规律;甲状软骨的位置存在性别差异,女性甲状软骨对应节段的位置相对较高.

Objective: To compare and analyze the predictive value of two kinds of classification methods, routine magnetic resonance imaging (MRI) and diffusion tensor tractography (DTT), on the diagnosis and prognosis in different degrees of acute cervical spinal cord injury (ACSCI).Methods: A total of 35 patients with ACSCI treated with surgery in our department from January 2013 to December 2014 were included and all patients had received MRI examination and diffusion tensor imaging examination before surgery. The motor score, sensory score and abbreviated injury scale (AIS) of American Spinal Injury Association were used to evaluate the neurological function of patients before and one year after surgery, respectively. Routine MRI was divided into 3 grades according to the compression and signals of spinal cords and DTT was also divided into 3 grades according to continuous levels of fibre bundle. The correlations between routine MRI grades and DTT grades and the neurological function of ACSCI before surgery and after surgery were analyzed, respectively.Results: There were no correlations between MRI grading and the motor score, sensory score and AIS of patients with ACSCI before surgery and after surgery. DTT grading showed no relations with the motor score, sensory score before surgery but were related to AIS before surgery. DTT grading was all related to the motor score, sensory score and AIS after surgery.Conclusions: The noninvasion of DTT showed spinal nerve fibers has a higher predictive value on the diagnosis and prognosis of ACSCI than routine MRI.

Bioactive scaffolds of the mesoporous bioglass (m-BG) and poly(l-lactide) (PLLA) composite were fabricated using a solvent casting-particulate leaching method. The results showed that incorporation of the m-BG into PLLA significantly improved the in vitro water absorption, degradability and apatite-formation ability of the m-BG-PLLA composite scaffolds, which were m-BG content dependent. Moreover, addition of the m-BG into PLLA could neutralize the acidic degradation products of PLLA and thus compensate for the decrease of the pH value. In cell culture experiments, the results revealed that the m-BG-PLLA composite scaffolds enhanced attachment, proliferation and alkaline phosphatase (ALP) activity of MC3T3-E1 cells, which were m-BG content dependent. In animal experiments, the SRmCT and histological elevation results showed that the composite scaffolds significantly improved osteogenesis in vivo. It can be suggested that incorporation of bioactive materials of m-BG into PLLA was a useful approach to obtain composite scaffolds with improved properties (such as water absorption, degradability, bioactivity and osteogenesis), and the composite scaffolds with excellent biocompatibility could be promising bioactive implants for bone regeneration.

Mesoporous magnesium silicate (m-MS) and poly(ε-caprolactone)–poly(ethylene glycol)–poly(ε-caprolactone) (PCL–PEG–PCL) composite scaffolds were fabricated by solvent-casting and particulate leaching method. The results suggested that the incorporation of m-MS into PCL–PEG–PCL could significantly improve the water adsorption of the m-MS/PCL–PEG–PCL composite (m-MPC) scaffolds. The in vitro degradation behavior of m-MPC scaffolds were determined by testing weight loss of the scaffolds after soaking into phosphate buffered saline (PBS), and the result showed that the degradation of m-MPC scaffolds was obviously enhanced by addition of m-MS into PCL–PEG–PCL after soaking for 10 weeks. Proliferation of MG63 cells on m-MPC was significantly higher than MPC scaffolds at 4 and 7 days. ALP activity on the m-MPC was obviously higher than MPC scaffolds at 7 days, revealing that m-MPC could promote cell differentiation. Histological evaluation showed that the introduction of m-MS into PCL–PEG–PCL enhanced the efficiency of new bone formation when the m-MPC scaffolds implanted into bone defect of rabbits. The results suggested that the inorganic/organic composite of m-MS and PCL–PEG–PCL scaffolds exhibited good biocompatibility, degradability and osteogenesis.

Mesoporous magnesium silicate (m-MS) and poly(ε-caprolactone)-poly(ethylene glycol)-poly(ε-caprolactone) (PCL-PEG-PCL) composite (m-MPC) was synthesized by solvent casting method. The results suggest that the mechanical properties of compressive strength and elastic modulus, as well as hydrophilicity, of the m-MPC increased with increase of m-MS content in the composites. In addition, the weight loss of the m-MPC improved significantly with the increase of m-MS content during composite soaking in phosphate-buffered saline for 10 weeks, indicating that incorporation of m-MS into PCL-PEG-PCL could enhance the degradability of the m-MPC. Moreover, the m-MPC with 40 w% m-MS could induce a dense and continuous apatite layer on its surface after soaking in simulated body fluid for 5 days, which was better than m-MPC 20 w% m-MS, exhibiting excellent in vitro bioactivity. In cell cultural experiments, the results showed that the attachment and viability ratio of MG63 cells on m-MPC increased significantly with the increase of m-MS content, showing that the addition of m-MS into PCL-PEG-PCL could promote cell attachment and proliferation. The results suggest that the incorporation of m-MS into PCL-PEG-PCL could produce bioactive composites with improved hydrophilicity, degradability, bioactivity, and cytocompatibility.

To assess and characterize the sacrum angular displacements in response to lumbar lordosis after lumbar/lumbosacral fusion.

Objective To provide some theoretic evidence for screening and establishing serum in dieators of early diagnosis of osteosarcoma(OS),the serum proteomics profiling difference of subjects with OS and age-matched healthy controls were analyzed to screen senlm proteomic biomarker related to osteosarcoma.Methods Serum samples were collected from 27 patients of OS (17 males,10 females) and 47 age and sex-matched healthy controls.The samples were divided into 2 sets randomly:training set (23 OS patients,37 healthy controls) and blind testing set(4 OS patients,10 healthy controls).Special serum protein or peptide pattern was determined by SELDI-TOF-MS measurement after treating the sample onto CM10 protein chip.The obtained data were analyzed by Biomarker Wizard software to screen serum proteome biomarkers with relation to OS.while decision tree for diagnosis of OS and blind validation were determined by bioinformatics analysis.Results 96 effective protein peaks were detected at the molecular range of 1488.15-19842u,among which 9 were significantly different between OS and controls.All tlle peptide pattern data were sampled randomly 1000 time.and 1000 decision tree model were obtained.Decision tree and 3-cross validation approach were used combine,20 decision tree which can difierentiate effectively OS patients from controls were constructed.With these classification tree.12 samples were correctly forecasted in 14 blind testing samples.the corresponding correct rate was 85.71%.Conclusion SELDI-TOF-MS protein chip combined with artificial intelligence classification algorithm helps find serum proteome biomarkers related to OS and the predictive medels can discriminate OS from healthy controls effectively,which may have gome potential value for early diagnosis of OS.

OBJECTIVE:To investigate the effect of compound pattern of ceramic bovine bone (CBB) and hydrogel(HG) on attachment, proliferation and differentiation of bone marrow stromal cell (MSC), and to find out the best way of constructing tissue engineered bone. METHODS:CBB, HG and MSC was compounded in different patterns and sequences to form CBB/HG/MSC (group A), HG/MSC/CBB (group B), CBB/MSC/HA (group C) and CBB/MSC (control group). Attachment and morphology of MSC were observed by scanning electronic microscope; the proliferation of MSC was evaluated by cell count; alkaline phosphatase(ALP) activity was examined by histochemistry and type I collagen synthesis was examined by immunohistochemistry staining 5 and 10 days later. RESULTS:In group A, MSC spread better, and ALP activity of group A was significantly higher than that of group B and control group(P < 0.01); but there was no significant difference between group A and group C(P > 0.05). There was no significant difference in type I collagen synthesis between four groups on the 5th day; but mean gray scale of type I collagen in group B was significantly higher than that in the other groups on the 10th day(P < 0.01). CONCLUSION:Different compound patterns of CBB, HG and MSC affect attachment, proliferation, differentiation of MSC. The compound pattern of CBB/HG/MSC is better than the others.