Brothers with novel compound heterozygous mutations in COL27A1 causing dental and genital abnormalities

COL27A1 encodes a collagen type XXVII alpha 1 chain. It is the product of this gene that provides the structural support of connective tissue and is reported to be the causative gene of Steel syndrome (OMIM #615155). The primary symptoms of patients with this defect are consistent with systemic bone disease; however, recent reports note findings of intellectual disability and hearing loss. In this study, we identified novel COL27A1 compound heterozygous variants in two brothers with rhizomelia and congenital hip dislocation as well as dental and genital abnormalities that have not yet been reported in Steel syndrome. This variant, of maternal origin, caused an amino acid substitution of arginine for glycine, c.2026G>C or p.G676R, in the collagen helix domain, which is assumed to damage the structure of the helix. The paternally transmitted variant, c.2367G>A, is located at the 3′ end of exon 12, and cDNA analysis revealed a splicing alteration. These novel, compound heterozygous COL27A1 variants might indicate an association of the gene with tooth and genital abnormalities.     

Comparison of static friction and surface topography of low friction and conventional TMA orthodontic arch wires: An in-vitro study

BackgroundArch wire surface characteristics, especially surface roughness and topography, influence the coefficient of friction during sliding. The clinician should be familiar with the properties of orthodontic appliances and materials that could result in high friction to maximize the efficiency of treatment. This study aimed to compare the static friction of orthodontic arch wire materials, including a newly introduced low-friction TMA, conventional TMA, and stainless steel arch wires, using an Instron universal testing machine and to evaluate their surface topographical features using a noncontact optical profilometer.MethodsA total of 30 arch wire specimens were used, including 10 low-friction TMA (TMA-Low), 10 conventional TMA (TMA-C), and 10 stainless steel (SS), (Ormco, Orange, CA, USA) measuring 0.016 × 0.022 in. The static frictional force of each arch wire material was measured using the universal Instron machine. The surface topography was evaluated using a noncontact profilometer machine.ResultsThe static frictional resistance forces were highest in the TMA-C alloy group, and the value was statistically significant in comparison to the SS arch wire but not to the TMA-Low arch wire. The mean value of the static friction of the TMA-Low group was intermediate between the TMA-C and SS arch wires. However, this difference was statistically insignificant compared to the other two alloys. A surface roughness evaluation using a profilometer machine revealed that the highest mean of all three roughness parameters was found in the TMA-C group, followed by the TMA-Low and SS arch wires in descending order.ConclusionThe static friction resistance forces and surface roughness values of the TMA-Low arch wire are comparable to those of TMA-C but are still considered inferior to those of the SS arch wire.     

尺骨鹰嘴解剖板及克氏针张力带在尺骨鹰嘴骨折中的疗效比较

目的探讨尺骨鹰嘴解剖板及克氏针张力带在治疗尺骨鹰嘴粉碎性骨折中的疗效并加以比较。方法将尺骨鹰嘴骨折共56例,随机分为两组：尺骨鹰嘴解剖板组（31例）,采用尺骨鹰嘴解剖板内固定;克氏针张力带治疗组（25例）,采用传统克氏针张力带内固定,术后对二组疗效进行比较分析。结果尺骨鹰嘴解剖板组优良率93．5％;克氏针张力带治疗组优良率72％。两组优良率比较P〈0．05表示差异有统计学意义。结论尺骨鹰嘴解剖板在尺骨鹰嘴骨折中固定更加可靠,可以进行早期功能锻炼,疗效确切。     

不同内固定物用于Lisfranc关节中间柱损伤内固定治疗的疗效对比

目的分析Lisfranc关节中间柱损伤时以不同内固定(螺钉、钢板、克氏针)行内固定治疗的效果。方法以2011年1月~2016年12月期间我院收治的145例Lisfranc关节中间柱损伤者为观察对象,所有患者均行内固定治疗,随机分为三组,观察1组49例(行螺钉内固定)、观察2组48例(行钢板内固定)、对照组48例(以克氏针行内固定),术后对患者随访1年,观察患者骨折恢复情况,采用骨科足踝学会(AOFAS)标准评估足功能恢复,比较三组患者疗效差异,记录患者骨折愈合时间,以视觉模拟评分法(VAS)对患者疼痛程度进行评分,统计术后患者并发症(足弓塌陷、感染、创伤性关节炎等)发生情况。结果观察2组恢复优良率为83.33%高于对照组的52.08%、观察1组的65.31%,差异有统计学意义(P0.05)。各组术后疼痛程度、骨折愈合用时有明显差异,且以观察2组患者愈合用时短、疼痛轻,差异有统计学意义(P0.05)。观察2组并发症发生率为6.25%低于对照组的27.08%、观察1组的16.33%,差异有统计学意义(P0.05)。结论 Lisfranc关节中间柱损伤以钢板行内固定,患者关节功能恢复好,并发症少、骨折愈合快。     

前交叉韧带胫骨止点撕脱骨折的关节镜治疗

目的：探索前交叉韧带胫骨止点撕脱骨折错位在关节镜下复位及钢丝内固定的新途径。方法：关节镜下骨折块复位及钢丝内固定前交叉韧带胫骨止点撕脱骨折14例。结果：术后14例骨折块位置满意。所有病例均获正常活动范围。结论：本术式为治疗前交叉韧带胫骨止点撕脱骨折错位提供了一种新的术式。关节镜下治疗前交叉韧带胫骨止点撕脱骨折是简便易行和便于推广应用的治疗。     

脊柱胸腰段新型钛合金钢板侧前方内固定生物力学研究

目的：探讨脊柱胸腰段骨折新型钛合金钢板（NTP）侧前方内固定可靠性及其脊柱内固定后强度、刚度和稳定性等力学性能。方法：采用10具新鲜胸腰段标本，造成压缩性骨折后用或不用NTP行侧前方固定，利用实验应力分析方法进行生物力学测试，在4种不同生理运动状况下测定脊柱标本的生物力学数据。结果：采用NTP内固定后的脊柱应变、位移比正常脊柱对照组的应变、位移分别减小20％和16％；脊柱的强度和刚度在内固定后分别比正常对照组提高20％和17％；极限承载能力比正常对照组提高3％。结论：采用NTP侧前方内固定后的脊柱不但在强度、刚度和稳定性上得到满足，而且在承载能力、脊柱的稳定上优于正常对照组，显示出采用新型钛合金钢板生物力学性能的优越性，而且有减压充分、操作方便、价格明显低于进口同类产品等优点。     

Embolization of a subclavian artery aneurysm with steel coils and thrombin

Subclavian artery aneurysms are rare lesions usually treated by surgical excision or ligation. Steel coils were used successfully to treat a rapidly enlarging subclavian aneurysm in a patient deemed unsuitable for surgery. Because of a profound, uncorrectable coagulopath, thrombin was required to obtain effective thrombosis.     

关节镜联合Orthcord线固定治疗青少年胫骨髁间隆起撕脱骨折的疗效观察

目的 探讨关节镜联合Orthcord线固定治疗青少年胫骨髁间隆起撕脱骨折的临床疗效.方法 回顾性分析2018年4月至2019年4月在我院初次行关节镜联合Orthcord线固定治疗青少年胫骨髁间隆起撕脱骨折的病人22例,观察其术后各时段的康复情况,应用疼痛视觉模拟量表(visual analogue scale,VAS)...     

单侧多功能外固定支架治疗开放性胫腓骨骨折的随机对照研究

目的评价单侧多功能外固定支架治疗开放性胫腓骨骨折的临床疗效。方法采用随机对照设计,将84例患者随机分配到单侧多功能外固定支架组（A组,42例）和钢板内固定组（B组,42例）接受治疗,并比较其治疗效果、愈合时间和术后并发症发生情况。结果两组间性别、年龄、致伤原因、骨折类型等基本情况一致。治疗效果（Z=2.031,P=0.042）、愈合时间（t=6.481,P=0）、伤口感染（χ2=4.480,P=0.034）和延迟愈合（χ2=4.459,P=0.035）等并发症发生率两组间比较,差异有统计学意义,A组的治疗效果、愈合时间和术后并发症发生情况优于B组。结论单侧多功能外固定支架在治疗开放性胫腓骨骨折的过程中取得了较好的效果,相对于传统的钢板内固定,具有治疗效果好、愈合时间短,术后并发症也较少的优点。     

新型医用无镍不锈钢的生物相容性评价

背景：BIOSSN4无镍不锈钢是一种奥氏体医用不锈钢材料,在中国药品生物制品检定所通过了标准的溶血实验、细胞毒性实验和致敏实验。 目的：评价新型医用BIOSSN4无镍不锈钢的体外细胞毒性及抗腐蚀性。 方法：将小鼠L929成纤维细胞悬液以1×108 L-1的浓度接种于96孔板,分5组培养,分别加入BIOSSN4无镍不锈钢浸提液、316L不锈钢浸提液、金合金浸提液、铅材料浸提液(阳性对照)及RPMI1640培养液(阴性对照)。培养1,2,3 d,观察细胞形态,采用MTT法检测各组吸光度值,计算细胞相对增殖率,评价毒性分级。在模拟口腔环境中,检测BIOSSN4无镍不锈钢、316L不锈钢及金合金的自腐蚀电位、自腐蚀电流密度及极化电阻。 结果与结论：培养3 d内,铅材料浸提液组细胞皱缩,细胞数量明显减少,细胞相对增殖率低于其余4组(P < 0.05);其余4组细胞形态良好,增殖旺盛,细胞相对增殖率均在75%以上。BIOSSN4无镍不锈钢浸提液、316L不锈钢浸提液与金合金浸提液的毒性均为1级,铅材料浸提液的毒性为2至3级,表明BIOSSN4无镍不锈钢具有良好的生物相容性。BIOSSN4无镍不锈钢的抗腐蚀性高于316L不锈钢,低于金合金。 中国组织工程研究杂志出版内容重点：生物材料;骨生物材料; 口腔生物材料; 纳米材料; 缓释材料; 材料相容性;组织工程