Use of neuron-specific enolase to predict mild brain injury in motorcycle crash patients with maxillofacial fractures: A pilot study

Purpose

Mild traumatic brain injury (TBI) is common but accurate diagnosis and its clinical consequences have been a problem. Maxillofacial trauma does have an association with TBI. Neuron-specific enolase (NSE) has been developed to evaluate neuronal damage. The objective of this study was to investigate the accuracy of NSE serum levels to detect mild brain injury of patients with sustained maxillofacial fractures during motor vehicle accidents.

Open tibial fractures in major trauma centres: A national prospective cohort study of current practice

Aims

To assess current national practice in the management of severe open tibial fractures against national standards, using data collected by the Trauma and Audit Research Network.

关节镜引导下复位内固定治疗胫骨平台骨折的疗效和对患者膝关节功能恢复及生活质量的影响

目的研究关节镜引导下复位内固定对胫骨平台骨折(FTP)患者的疗效和膝关节功能恢复及生活质量的影响。方法选取该院2016年8月-2018年3月收治的FTP患者104例,采用随机数字法将其分为观察组和对照组,每组52例。观察组行膝关节镜辅助切开复位内固定术,对照组患者行传统切开复位内固定术。比较两组患者的手术指标(切口长度、出血量、手术用时、术后引流量及下床时间)、骨生化指标[Ca~(2+)、降钙素(CT)、骨形态发生蛋白(BMP)和骨特异性碱性磷酸酶(NBAP)]、治疗疗效、膝关节功能Lysholm评分、生活质量SF-36评分和并发症发生情况。结果治疗前,两组患者骨生化指标、膝关节功能Lysholm评分、生活质量SF-36评分均无明显差异(P0.05)。治疗后,观察组切口长度、出血量、术后引流量、下床时间、NBAP明显少于对照组(P 0.01),观察组手术时间、Ca~(2+)、CT、BMP水平、Lysholm评分和SF-36评分均明显高于对照组(P 0.01)。观察组治疗有效率为90.38%,明显高于对照组80.77%(P 0.01)。观察组并发症发生率为11.54%,明显低于对照组28.84%(χ~2=4.69,P=0.002)。结论关节镜引导下复位内固定能够明显提升FTP患者的疗效,促进膝关节功能恢复,改善患者骨代谢指标,提高患者的生活质量,值得向临床推广应用。     

Psychosocial reactions to upper extremity limb salvage: A case series

Study Design

Case series.

Complications in patients of acetabular fractures and the factors affecting the quality of reduction in surgically treated cases

IntroductionAcetabulum fractures, though relatively uncommon, are associated with significant morbidity and mortality. These involve high energy trauma and due to their complex nature, the management requires understanding the relevant surgical anatomy, defining the injury via appropriate radiographic assessment and determining a suitable treatment plan. Literature is scarce for the demographic data, fracture patterns, associated injuries, management and early complications in the Indian scenario. These factors play a pivotal role in the ultimate recovery of the patients. Therefore this study was conceptualised to assess the epidemiology and evaluate the complications of these fractures. Furthermore the effects of various factors determining the quality of reduction in surgically treated patients were also assessed.MethodologyThis was a prospective observational study in which patients presenting to the advance trauma centre of our institute with acetabulum fractures were included. Demographical data of the patients, mechanisms of injuries, fractures morphologies, complications and radiological outcomes were recorded prospectively.Results116 patients with acetabular fractures were included in the study. 81% of these were males, with average age of 39.95 ± 15.87 years; with road traffic accidents being the predominant mode of injuries. Mortality was reported in 5 patients; 4 patients had deep venous thrombosis and sciatic nerve injuries were seen in 12 patients of which 4 were iatrogenic. 8 patients had some form of infection, out of which 4 required multiple debridements. 4 cases developed heterotrophic ossification while 2 cases had loss of reduction. The timing of surgery and other associated fractures had significant effect on the quality of reduction (p < 0.05); while age, gender, mode of injury or individual fracture patterns had no such effect.ConclusionsProper radiological assessment and evaluation of fracture configuration is important for management of acetabulum fractures. When indicated, this should be followed by early open reduction and internal fixation to achieve anatomical reduction, with management of associated injuries for better outcomes.     

The impact of exome sequencing on the diagnostic yield of muscular dystrophies in consanguineous families

Muscular dystrophies (MDs) are a heterogeneous group of inherited disorders that are characterized by progressive skeletal muscle weakness and dystrophic changes on muscle biopsy. The broad genetic and clinical heterogeneity of MDs make the accurate diagnosis difficult via conventional approaches. This study investigated 23 patients from eight unrelated consanguineous families with MDs. Previous clinical assessments did not accurately clarify the type of their MD and/or misdiagnose them with another disease. Exome sequencing (ES) is an efficient, time-saving, and cost-effective tool, enabling disease-causing variant (DCV) detection in affected individuals. We investigated the use of ES to diagnose MD and discover the underlying genetic etiology. We achieved a remarkable diagnostic success rate of 87.5% (7 out of 8 families) which is the highest rate reported thus far compared to previous studies. We identified two novel pathogenic variants in DYSF gene (c.4179delG, c.1149+3G > C). The latter variant impacts the splicing machinery of DYSF mRNA. Moreover, we further assessed the pathogenicity of four recurrent variants ((DYSF, c.4076T > C), (GMPPB, c.458C > T), (SGCA, c.739G > A) (TTN, c.7331G > A), designated their neurological impact and added new phenotypes in patients with these variants. To our knowledge, this is the first study applying an ES-based comprehensive molecular diagnosis to Jordanian cohort with MDs. Our findings confirmed that ES is a powerful approach for the diagnosis of MD patients. This efficient method of molecular diagnosis is crucial for guiding patient clinical care, genetic counseling, and most importantly, paving the way for gene therapy which is currently in clinical trials.     

绝经后骨质疏松人群发生椎体骨折的相关危险因素回归分析

目的分析绝经后骨质疏松人群发生椎体骨折相关危险因素。方法纳入2018年6月至2019年5月86例在我院就诊的绝经后骨质疏松症(postmenopausal osteoporosis,PMOP)患者临床资料,其中单纯PMOP患者43例作为对照组,PMOP椎体骨折患者43例作为试验组。两组均进行临床一般资料收集,并完善骨密度、血清实验室指标等相关检查,对PMOP椎体骨折的相关危险因素作多因素回归分析。结果试验组L1~4、全髋及股骨颈骨密度均低于对照组,试验组HOMA-IR指数及糖尿病发生率均高于对照组,差异有统计学意义(P<0.05)。试验组与对照组血清骨钙素(bone gla-protein,BGP)[(14.5±5.07) ng/ml vs.(18.1±5.48) ng/ml]、Ⅰ型原胶原N-端前肽(procollagen type 1N-peptide,PINP)[(58.4±19.52) ng/ml vs.(41.7±20.16) ng/ml]、血清Ⅰ型胶原羧基端肽(type 1 collagen carboxy terminal peptide,β-CTX)[(0.5±0.26) ng/ml vs.(0.3±0.23) ng/ml]、血清25-(OH) D [(15.9±7.24) ng/ml vs.(21.4±8.06) ng/ml]、骨源性碱性磷酸酶(bone alkaline phosphatase,b ALP)[(20.1±6.85) ng/ml vs.(14.0±5.44) ng/ml]、血清雌二醇(serum estradiol,E2)[(33.6±5.21) pg/ml vs.(42.4±11.58) pg/ml]指标比较差异均有统计学意义(P<0.05)。Logistic多因素回归分析显示,PINP、β-CTX、b ALP与PMOP椎体骨折呈正相关性,BGP、25-(OH) D与PMOP椎体骨折呈负相关性(P<0.05)。结论 PINP、β-CTX、b ALP、BGP、25-(OH) D是PMOP椎体骨折发生的危险因素,对预测及防治PMOP椎体骨折具有重要的指导意义。